Introduction

Retinal vascular anomalies are rare hereditary or sporadic conditions affecting the retina and multiple organ systems. These anomalies include vascular tumors and telangiectasias. The vascular tumors of the retina are retinal capillary hemangiomas, cavernous hemangiomas, racemose hemangiomas, and retinal vasoproliferative tumors. The retinal telangiectasias are observed in conditions such as Coats disease, Leber's miliary aneurysms, and idiopathic juxtafoveal telangiectasias.[1]

Capillary hemangiomas of the retina were first reported by Vigla in 1864 in a patient with central nervous system (CNS) lesions.[2] Retinal capillary hemangiomas are benign vascular tumors originating from the neurosensory retina or optic disc. These tumors are sporadic or associated with Von Hippel-Lindau (VHL) syndrome.[3] VHL syndrome is an inherited autosomal dominant disorder characterized by vascular tumors and cysts in multiple organ systems.[4] Conditions associated with VHL syndrome include CNS and retinal hemangioblastomas, renal cell carcinoma, pheochromocytoma, pancreatic islet tumors, endolymphatic sac tumors, and epididymal, renal, and pancreatic cystadenomas.[5][6] The retinal tumors typically present as a reddish-orange mass in the retinal periphery, supplied by a pair of dilated and tortuous vessels.[7] Vision loss is due to retinal exudation, detachment, vitreous hemorrhage, and neovascular glaucoma.[8]

Cavernous hemangiomas of the retina, also known as retinal cavernomas, were initially described as angiomatosis retinae by Niccol and Moore in 1934.[9][10] These hemangiomas are rare non-progressive retinal vascular hamartomas. In some cases, they may involve the CNS, which can cause significant morbidity and mortality if not diagnosed and treated early.

Retinal capillary hemangiomas can manifest as a solitary lesion or part of Wyburn-Mason syndrome, also known as Bonnet-Dechaume-Blanc syndrome.[11] This rare congenital disorder is sporadic and results in arteriovenous malformations (AVM) in the retina, visual pathways, and midbrain, maxilla, and mandible regions.[12] During ophthalmoscopic examination, dilated and tortuous vessels from the optic disc to the retinal periphery are observed.[13] The visual acuity upon presentation ranges from normal to poor, depending on the associated complications.[14]

Etiology

The retinal capillary hemangiomas, also called retinal hemangioblastomas, may present in isolation or as a significant manifestation of VHL syndrome. Mutation in the VHL gene at chromosome 3p25.3 is primarily associated with this autosomal dominant syndrome.[15] The VHL gene encodes the VHL protein (pVHL) responsible for the degradation of ubiquitin-mediated hypoxia-inducible factor (HIF).[16] The inactivation of pVHL leads to sustained activation of HIF proteins, triggering angiogenesis and tumor formation in retinal hemangioblastomas.[17]

Retinal cavernous hemangiomas can be sporadic or inherited in an autosomal dominant form.[18] Familial retinal cavernomas have associated cerebral and cutaneous involvement.[19] In combined retinal and cerebral cavernous hemangiomas, multiple cerebral cavernous malformation gene mutations, including CCM1/KRIT1 at chromosome 7q21.2, CCM2/MGC4607 at chromosome 7p13, and CCM3/PDCD10 at chromosome 3q26.1, have been identified.[20] A somatic mutation in the PIK3CA gene at chromosome 3q26.32 has been reported to cause sporadic cerebral cavernous malformation, also called CCM4.[21]

Racemose hemangiomas in Wyburn-Mason syndrome occur due to a developmental abnormality that affects the primitive vascular mesoderm, shared by the developing optic cup and anterior neural tube.[12] The anterior vascular plexus is responsible for the formation of the retinal and hyaloid vessels in the eye and the vasculature of the midbrain.[22]

Epidemiology

Retinal capillary hemangiomas represent the most common and often earliest manifestation of VHL syndrome.[23] The prevalence of retinal capillary hemangiomas in VHL is reported to be up to 1 in 73,080 individuals, with a higher occurrence observed in Europeans compared to non-Europeans.[24][25] Patients with solitary retinal hemangiomas have a 30% to 46% chance of developing VHL at a later stage.[26] The mean age of diagnosis of retinal capillary hemangiomas in VHL is 25 years.[27] Both men and women are equally affected. VHL-associated tumors are typically bilateral or multiple. Evidence of genetic anticipation exists; the earlier the onset, the more severe the presentation is in successive generations.[28] The average life expectancy of patients with VHL syndrome is between ages 40 and 52, with CNS hemangioblastomas being the primary cause of mortality.[29]

Cavernous hemangiomas of the retina are more common in White patients, with no apparent gender predilection. The median age of presentation is 21.[30] Familial type of cavernous malformations has an autosomal dominant inheritance with high penetrance and variable expressivity.[31] The frequency of retinal cavernous hemangiomas is estimated at 5% in patients with familial cerebral cavernous hemangiomas.[10]

The exact prevalence of racemose hemangiomas is not known due to their rarity.[32] No racial or gender preference is recognized. The mean age of presentation is before the third decade of life.[22] Hemodynamic changes in high-flow arteriovenous malformations can result in intra-lesional vessel wall involution, potentially leading to retinal or choroidal ischemia and degeneration.[33] Minor arteriovenous malformations may remain asymptomatic and are diagnosed at a later stage.[34]

Pathophysiology

In VHL syndrome, a mutation in the VHL gene leads to the inactivation of pVHL.[35] This failure of hypoxia-inducible factor degradation creates a pseudo-hypoxia state, leading to dysregulated angiogenesis, cellular proliferation, and a shift in glycolytic metabolism, thereby promoting the formation of hemangioblastomas.[36] The VHL gene exhibits 3 types of mutations, each with distinct characteristics as follows:

• The first type of mutation is a deletion or nonsense mutation, typically observed in isolated hemangioblastomas.
• The second type of mutation is a missense mutation, which is further classified into 3 subtypes—type 2A, type 2B, and type 2C. In type 2A, patients exhibit both hemangioblastomas and pheochromocytomas. In contrast, in type 2B, patients also present with renal cell carcinomas. Type 2C is characterized by the presence of only pheochromocytomas. Missense mutations are predominantly found in patients with retinal cavernous hemangiomas. 
• The third type of mutation, known as type 3, is associated with polycythemia.[37][38]

Retinal cavernous hemangiomas have been described as localized vascular hamartomas partly separated from the normal retinal vascular system or as congenital venous malformations with the same growth potential as VHL syndrome.[39] The saccular dilatations in the hemangiomas exhibit the anatomy of normal retinal vessels, explaining the lack of exudation or hemorrhage.[40] 

Retinal hemangiomas in Wyburn-Mason syndrome occur due to a developmental defect in the primitive vascular plexus.[41] Disturbing tissue before the seventh week of gestation can result in anomalous vessels in the eye and ipsilateral mesencephalon.[12] However, if the disturbance occurs after the seventh week of pregnancy, it will only affect one of the structures.[42] The direct communication between arterial and venous systems in high-flow arteriovenous malformations leads to turbulent blood flow, damage to the vessel walls, thrombosis, and vessel occlusion.[43] High-flow arteriovenous malformations can sometimes cause edema from capillary leakage or pressure changes.[44] 

Histopathology

Histopathological examination of retinal capillary hemangiomas shows the presence of unusual capillary-like channels occupying all the layers of the retina that are surrounded by foamy cells with vacuoles.[45][46] The tumors do not have endothelial cells; some may have reactive glial proliferation at the edges of larger hemangioblastomas. Chan et al have reported the presence of sporadic tumorlet cells in ocular VHL-associated lesions.[47] These cells form angio-mesenchymal islands and are frequently adjacent to small retinal vessels or within the inner retinal layers. Ocular hemangioblastomas exhibit high levels of cellular markers, including CD133, erythropoietin, and erythropoietin receptor.[48]

Histopathological examination of retinal cavernous hemangioma shows the presence of large-sized vascular spaces lined by normal endothelium involving all the retinal layers. These vessels are surrounded by thick fibroglial septa, occasionally containing glial cells.[49] Upon ultrastructural examination, the vessels are lined by a continuous layer of non-fenestrated endothelial cells, which exhibit terminal bars on the luminal side and a thin, uninterrupted basal membrane. The basal membrane is further surrounded by an interrupted layer of pericytes encased by their basal membrane.[40]

Retinal hemangiomas have a lack of histopathological data. Distinguishing between arteries and veins is complex, and the lesions occupy the entire retina thickness. The abnormal vessels are made of fibromuscular media and acellular adventitious sheath.[34]

History and Physical

The presentation of retinal capillary hemangiomas depends on the size and location of the tumor. Family history plays an essential role in identifying VHL syndrome. The usual complaint is progressive vision loss.[13] Cerebellar hemangioblastomas may present with headache, vomiting, ataxia, and sensory and motor deficits.[50] Endolymphatic sac tumors are rare and typically present with symptoms such as aural fullness, disequilibrium, and hearing loss. Pancreatic and renal cysts are typically asymptomatic.[51] Patients with adrenal pheochromocytomas present with sweating, palpitation, hypertension, pallor, headache, or nausea.[52] Many lesions are detected incidentally on routine dilated fundus examination. Cystadenomas of the epididymis, if present bilaterally, can rarely cause infertility.[53]

Cavernous hemangiomas are usually asymptomatic but can present with a mild-to-moderate decrease in visual acuity.[54] CNS involvement may present with headaches, seizures, and visual disturbances.[10] Retinal hemangiomas of the eye are asymptomatic in smaller arteriovenous malformations and are incidentally detected during a routine examination.[22] Larger arteriovenous malformations may cause severe vision loss, and they present with vitreous hemorrhage, retinal detachment, venous occlusions, optic disc edema, and optic atrophy.[55] Neurological symptoms include headache, seizures, hemiparesis, cranial neuropathies, and hydrocephalus.[12]

Evaluation

The diagnosis of retinal capillary hemangiomas is made through clinical examination.[56] Dilated ophthalmoscopic examination reveals a reddish-orange mass with dilated and tortuous afferent arterioles and efferent venules (see Image. Retinal Capillary Hemangioma). The most common location is the mid-peripheral temporal quadrant of the retina.[57] However, 15% of the lesions are in the juxtapapillary or peripapillary retina.[7] The incipient lesions appear as small aneurysmal dilatations of retinal capillaries. The optic nerve hemangioblastomas lack the feeding artery and draining vein, as observed in retinal hemangioblastomas, and are often misdiagnosed. Three types of optic nerve hemangioblastomas are endophytic, exophytic, and sessile.[58] 

• Endophytic tumors appear as round, reddish lesions projecting into the pre-papillary vitreous.
• Exophytic lesions extend from the disc margin to the sub-retinal space and appear as a yellow, nodular tumor. 
• Sessile types are challenging to detect as they appear as a localized thickening at the neuroretinal rim without prominent coloration. Sessile hemangioblastomas at the juxtapapillary retina show vascularity on optical coherence tomography angiography (OCTA).[52][59][60]

Fundus fluorescein angiography (FFA) is the most important diagnostic tool due to the tumor's vascular nature.[61] This technique is useful in detecting subclinical pinpoint tumors as small as the width of a third-order retinal artery and in detecting leakage from the mass into the vitreous cavity and adjacent retina in patients with distant macular edema.[62] Ultrasonography shows an acoustically solid intraocular tumor with or without surrounding subretinal fluid.[52] Optical coherence tomography (OCT) shows intraretinal tumors involving the entire retinal thickness and associated retinal changes such as retinal edema, hard exudates (hyperreflective lesions), and the epiretinal membrane.[63] OCTA helps measure the dimensions and visualize the tumor's structure and response to treatment.[64] On OCTA, the lesions are bright, well-defined, and elevated, involving superficial and deeper retinal layers or surrounded by void areas in the deep capillary plexus.[65]

• CNS hemangioblastomas most frequently occur in the cerebellum (60%), spinal cord (30%), and brainstem (10%) and rarely involve optic pathways and choroidal plexus (1%). Magnetic resonance imaging (MRI) of the brain can show nodular lesions with adjacent cysts.
• Endolymphatic sac tumors are rare and appear as enhancing cysts in MRI.
• Renal manifestations include benign renal cysts and clear cell renal carcinomas diagnosed using MRI.
• Pheochromocytomas are found in approximately 20% of patients with VHL syndrome, and they are diagnosed by testing urinary catecholamines and plasma-free metanephrines compounded with abdominal ultrasound and MRI.
• Pancreatic manifestations, such as cysts, serous cystadenomas, and neuroendocrine tumors, are typically asymptomatic and are identified through MRI.
• Epididymal cysts are found in 25% to 60% of men and can be identified by palpation. Ultrasound demonstrates a solid mass; sometimes, cystic lesions can be noted.[52][66][67][68][69][70]

Genetic testing to identify VHL gene mutation can benefit family members using southern blot and multiplex ligation-dependent probe amplification techniques.[71]

Cavernous vascular hemangioma of the retina can be diagnosed through dilated fundoscopy. The lesions appear as demarcated dark, intraretinal grape-like clusters of dilated and saccular blood vessels along the retinal vein or on the optic disc (see Image. Retinal Cavernous Hemangioma).[72] Aneurysms may be small and subtle or extensive, involving multiple quadrants of the retina.[73] These aneurysms are raised above the retinal surface, with grey and white glial zones covering the surface due to prior recurrent hemorrhages.[74] FFA typically shows hypofluorescence in the arterial phase with a slow appearance of fluorescein within the venous aneurysms.[32] Aneurysm filling is characterized by a fluorescein-erythrocyte interface. Red blood cells settle at the bottom leaving plasma on the top, creating fluorescein-blood levels.[75] OCT demonstrates a lobulated hyperreflective mass with clear cystic spaces.[76] Ultrasonography shows a well-defined, acoustically solid mass and helps detect large tumors obscured by vitreous hemorrhage. Familial forms of cavernous hemangiomas are associated with cutaneous and cerebral cavernous hemangiomas. Cerebral cavernous hemangioma presents with headaches, seizures, and transient visual disturbances. Cerebral cavernous hemangiomas are 3 times more common in the supratentorial part of the brain compared to in the infratentorial part of the brain.[32] Brain MRI is needed to identify CNS cavernomas.[30] Genetic testing for CCM genes should be completed in appropriate clinical settings in case of multiple hemangiomas or positive family history.[77]

Ophthalmoscopic examination of retinal racemose angiomas shows a large, dilated, tortuous retinal artery extending from the optic disc and directly connecting to the retinal vein without any intervening capillaries (see Image. Retinal Racemose Angioma).[13][78] Arteriovenous communications of the retina or retinal arteriovenous malformations can be classified into three groups based on their characteristics.[33][79]

• Group 1 involves an arteriolar or abnormal capillary plexus between the retinal artery and vein.
• Group 2 involves direct arteriovenous communication without an intervening capillary plexus. Type 1 and type 2 lesions typically do not involve the CNS.
• Group 3 involves arteriovenous shunts with large convoluted vessels. The retinal arteries and veins cannot be differentiated. Such lesions are typical of congenital retinocephalofacial vascular malformation syndrome or Wyburn Mason syndrome, with a high incidence of central nervous system lesions.[80][81]

Typically, no exudation or hemorrhage is present. FFA findings show rapid filling of the affected blood vessels without any leakage. OCTA is a better tool for detecting the vessel of origin and resolving associated leaking macroaneurysms following treatment (focal laser). Some associated macroaneurysms may have spontaneous thrombosis.[82] Vascular lesions in the CNS commonly affect the midbrain and tend to occur on the same side as the affected eye.[32] Intracranial arteriovenous malformations are diagnosed using imaging techniques such as computed tomography (CT), MRI, and magnetic resonance angiography (MRA).

Treatment / Management

Treatment of capillary hemangiomas is decided based on the tumor location, number, size, and secondary effects. Inactive fibrotic lesions can be left untreated. Laser photocoagulation is an effective treatment modality for smaller capillary hemangiomas with basal diameters up to 4 mm.[83] Alternatively, cryotherapy can manage tumors up to 5 mm but requires multiple sessions to achieve optimal results.[84] However, cryotherapy can cause a transient increase in exudative or tractional vitreoretinopathy.[85] More extensive tumors require external beam radiotherapy, plaque brachytherapy, or proton beam therapy.[86] Advanced cases with exudative and tractional retinal detachment may need vitreoretinal surgery.[7] Surgical endoresection of the tumor can improve visual outcomes with minimal sequelae. Endodiathermy or feeder vessel ligation may reduce the risk of intraoperative bleeding and provide better tumor control.[87] Juxtapapillary retinal hemangiomas can pose a significant challenge to treat due to their location in the papillomacular bundle.[88] However, verteporfin photodynamic therapy has shown promise as an effective treatment option for these lesions.[89] The ability to cause selective vascular occlusion with lesser damage to the optic nerve makes it a viable alternative.[90] 

The results of several case reports have suggested that combined anti-vascular endothelial growth factor (anti-VEGF) agents and photodynamic therapy may hold promise as a therapeutic option for certain retinal hemangiomas.[91] Belzutifan is a HIF-2-α inhibitor and is the first Food and Drug Administration (FDA)-approved systemic oral drug for VHL-associated tumors such as renal cell carcinoma, CNS hemangioblastoma, and pancreatic neuroendocrine tumors. The most common adverse effects include anemia, nausea, headache, and raised blood glucose, and it is harmful in pregnancy.[92] Sunitinib, a tyrosine kinase inhibitor, has shown promising results in treating renal carcinomas in VHL syndrome but has not been effective in treating hemangioblastomas.[93] However, disease progression, fatigue, and hand-foot syndrome were noted in patients with advanced VHL disease.[94] Dovitinib, a tyrosine kinase inhibitor of the VEGF receptor and fibroblast growth factor, also resulted in adverse effects such as maculopapular rash, diarrhea, and fatigue.[95] Pazopanib has demonstrated clinical responses in renal tumors of VHL despite adverse effects such as diarrhea, hypertension, fatigue, and transaminitis.[96] 

Retinal cavernous hemangiomas typically remain stable and asymptomatic and, therefore, do not require intervention.[30] Mild vitreous or retinal bleeding generally resolves spontaneously without medical intervention.[32] However, if the subretinal or vitreous hemorrhage is severe, cryotherapy and laser photocoagulation may be recommended as potential treatment options.[97] Systemic infliximab infusion has been reported to cause temporary tumor regression.[98] Recently, photodynamic therapy has proven to be a safer option for patients with symptomatic hemangiomas.[99] 

The management approach for retinal hemangiomas depends on the location of the arteriovenous malformations and the associated symptoms. Conservative management is typically recommended for asymptomatic arteriovenous malformations. However, symptomatic cases with complications, such as retinal ischemia, may necessitate laser photocoagulation, pars plana vitrectomy to address non-clearing vitreous hemorrhage, or cyclo-destructive procedures for painful blind eye caused by neovascular glaucoma.[100] Intracranial arteriovenous malformations can be treated with embolization.[101]

Differential Diagnosis

The differential diagnosis of retinal capillary hemangiomas includes cavernous hemangiomas, retinal hemangiomas, retinal macroaneurysms, and retinal vasoproliferative tumors.

Vasoproliferative tumors of the retina are benign reactive vascular proliferations secondary to retinal ischemia or injury. This condition is typically non-familial and has no systemic association.[102] Most tumors are idiopathic, whereas the rest occur secondary to other ocular conditions such as retinitis pigmentosa, Coats disease, uveitis, and retinal detachment.[103] The lesions are yellowish-red and typically occur in the inferotemporal peripheral retina.[104] Differentiation from capillary hemangiomas is possible due to their location at the extreme periphery in the inferior retinal quadrant and the absence of prominent feeder vessels.[32] Management of vasoproliferative tumors depends on the presence of visual disturbances and the lesion size. The smaller and peripheral lesions require only observation. The treatment modalities include laser photocoagulation, transpupillary thermotherapy, cryotherapy, intravitreal anti-VEGF injections, or vitreoretinal surgery, depending on the complications.[105]

Differentiating cavernous hemangiomas of the retina from other idiopathic retinal telangiectasias, such as Coats disease and Leber's miliary aneurysm, is less challenging. These conditions are characterized by progressive vascular dilatation resulting in intraretinal and subretinal exudation.[13] The aneurysms are typically single and located along the retinal vessels adjacent to the areas of ischemia. Fluorescein angiography can assist in diagnosis by detecting early leakage from capillaries with adjacent capillary non-perfusion areas.[106]

Retinal arteriovenous malformations associated with facial arteriovenous malformations should be differentiated from Sturge-Weber Syndrome if port-wine stains appear on the face or are associated with congenital glaucoma.

Other differential diagnoses include:

• Inflammatory granuloma related to tuberculosis and sarcoidosis
• Exudative vascular anomalous complex or retinal capillary macroaneurysm
• Perifoveal exudative vascular anomalous complex
• Macroaneurysm
• Congenital retinal marovessel [107][108][109][110][111]

Prognosis

The visual prognosis of retinal capillary hemangiomas depends upon several factors, including the size, location, number, and amount of exudation.[101] Patients with multiple tumors are at a greater risk of developing new lesions and thus require more frequent follow-up.[112] Approximately 25% of cases may result in permanent visual loss, and roughly 20% of patients experience visual acuity of 20/100 or less in at least 1 eye.[57] The type of mutations in the VHL gene has been found to affect the visual prognosis.[113] Individuals with truncated VHL proteins had lesser visual morbidity compared to those with missense mutations, who developed more aggressive and multiple retinal cavernous hemangiomas with higher complication rates.[114] 

Retinal cavernous hemangiomas are generally considered asymptomatic and non-progressive. In rare cases, vitreous hemorrhage may occur, which is typically self-limiting.[32] However, cerebral cavernous hemangiomas may result in severe complications such as seizures, intracranial hemorrhages, and even death.[18] Routine neuroimaging tests are recommended for early detection and management of the condition.[30]

The prognosis of hemangiomas of the retina is good unless patients develop complications such as macular edema, vitreous hemorrhage, and neovascular glaucoma.[115] Vision loss occurs due to the orbital-cranial arteriovenous malformations causing compressive optic neuropathy.[116] Patients with intracranial arteriovenous malformations have poor outcomes after surgical resection if the lesion is located around the optic chiasma.[117]

Complications

The most common complication of retinal capillary hemangiomas is the formation of epiretinal membrane and subretinal fluid.[37] Retinal exudation and proliferative gliosis are the significant causes of visual impairment in about 50% of the affected individuals.[118] A retrospective analysis of 18 patients revealed that eyes with tractional or exudative retinal detachment exhibited poor visual acuity at follow-up.[119] Visual loss in retinal capillary hemangioma is due to retinal exudation, fibrovascular proliferation, rhegmatogenous or tractional retinal detachment, macular hole, and glaucoma.[8]

Retinal cavernous hemangiomas are non-progressive with minimal complications, the most common being vitreous hemorrhage.[39] Exudation is rare, and fibroglial tissue may develop over the tumor surface, which can cause visual impairment if the tumor is located at the macula.[40][120]

Retinal arteriovenous malformations in Wyburn-Mason syndrome can result in various complications, including macular edema, retinal ischemia, retinal vein occlusion, vitreous hemorrhage, and neovascular glaucoma.[121] Arteriovenous malformations in the maxillary and mandibular region can lead to profuse bleeding during dental or maxillofacial surgical procedures.[122]

Deterrence and Patient Education

Early detection of retinal vascular anomalies and frequent follow-up are crucial for avoiding severe complications. Individuals with a proven VHL mutation or a positive family history should undergo annual screening for blood pressure and visual, auditory, and neurological manifestations from the first year of age. Urinary or blood metanephrines can be tested annually from age 5 to rule out pheochromocytomas.[123] MRI of the brain and spine and abdominal ultrasonography is recommended every 2 years from age 16.[51] In symptomatic patients, an MRI of the internal auditory canal can detect endolymphatic sac tumors.[124] Ocular screening should be performed every 6 to 12 months until age 30 and yearly.[125] Familial forms of cavernous hemangiomas of the retina are typically bilateral and associated with cutaneous and CNS hemangiomas, making it necessary to screen at-risk family members for cerebral hemangiomas with MRI brain.[74]

Pearls and Other Issues

Patients with retinal vascular anomalies should be aware of the possibility of systemic involvement and the importance of periodic screenings for ocular and systemic abnormalities. Such screenings can be crucial in detecting life-threatening conditions. Patients with a positive genetic test for VHL should be referred to a clinical geneticist for appropriate management, and those planning for pregnancy should receive education on fertility issues and the need for prenatal genetic testing. Screening first-degree relatives of patients with multiple organ involvement is also imperative. In cases of cavernous or racemose hemangiomas, ruling out cerebral involvement is essential, which can result in life-threatening intracranial hemorrhage.[126] Asymptomatic lesions can be closely monitored without the need for intracranial surgeries.

Enhancing Healthcare Team Outcomes

Retinal vascular anomalies are rare, but early identification and management are critical for reducing significant mortality and morbidity. A dedicated nurse can be assigned as a case manager to assist the treating clinician in providing psychosocial care and ensuring that the patient attends the clinic on the scheduled appointment dates and follows the screening protocols. A supportive multi-disciplinary team comprising physicians, nurses, radiologists, neurologists, geneticists, ophthalmologists, endocrinologists, and ear-nose-throat specialists can improve care in such patients.[34]

All healthcare professionals involved in patient care should possess the clinical skills and knowledge to manage the condition and be aware of the potential complications. In addition, a strategic approach according to evidence-based guidelines is essential for the management and screening of the condition. Ethical considerations must guide decision-making for treatment, and patients should receive thorough counseling regarding the available treatment options to ensure that treatment aligns with their preferences. Effective coordination, communication, and teamwork are crucial for delivering expert patient care, from screening to management.[127][128]

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Disclosure: Tharini S declares no relevant financial relationships with ineligible companies.

Disclosure: Koushik Tripathy declares no relevant financial relationships with ineligible companies.