U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hyperopia, high

MedGen UID:
341009
Concept ID:
C1855925
Finding
Synonym: Hyperopia, High
 
HPO: HP:0008499
Monarch Initiative: MONDO:0009392
OMIM®: 238950

Definition

A severe form of hypermetropia with over +5.00 diopters. [from HPO]

Clinical features

From HPO
Hyperopia, high
MedGen UID:
341009
Concept ID:
C1855925
Finding
A severe form of hypermetropia with over +5.00 diopters.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperopia, high

Conditions with this feature

SHORT syndrome
MedGen UID:
164212
Concept ID:
C0878684
Disease or Syndrome
SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.
Retinitis pigmentosa 12
MedGen UID:
374019
Concept ID:
C1838647
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.
Leber congenital amaurosis 6
MedGen UID:
344245
Concept ID:
C1854260
Congenital Abnormality
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
Isolated microphthalmia 1
MedGen UID:
381546
Concept ID:
C1855052
Disease or Syndrome
Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). Genetic Heterogeneity of Isolated Microphthalmia MCOP1 has been mapped to chromosome 14q32. MCOP2 (610093) is caused by mutation in the CHX10 gene (142993) on chromosome 14q24. MCOP4 (613094) is caused by mutation in the GDF6 gene (601147) on chromosome 8q22. MCOP5 (611040) is caused by mutation in the MFRP gene (606227) on chromosome 11q23. MCOP6 (613517) is caused by mutation in the PRSS56 gene (613858) on chromosome 2q37. MCOP7 (613704) is caused by mutation in the GDF3 gene (606522) on chromosome 12p13. MCOP8 (615113) is caused by mutation in the ALDH1A3 gene (600463) on chromosome 15q26. A disorder formerly designated MCOP3 has been reclassified as syndromic microphthalmia-16 (611038).
Hyperopia, high
MedGen UID:
341009
Concept ID:
C1855925
Finding
A severe form of hypermetropia with over +5.00 diopters.
Leber congenital amaurosis 5
MedGen UID:
388031
Concept ID:
C1858301
Disease or Syndrome
Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
Microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies
MedGen UID:
368490
Concept ID:
C1968637
Disease or Syndrome
Isolated microphthalmia 5
MedGen UID:
410021
Concept ID:
C1970236
Disease or Syndrome
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.
Isolated microphthalmia 6
MedGen UID:
462107
Concept ID:
C3150757
Disease or Syndrome
Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).
Leber congenital amaurosis 8
MedGen UID:
462552
Concept ID:
C3151202
Disease or Syndrome
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
Jalili syndrome
MedGen UID:
501210
Concept ID:
C3495589
Disease or Syndrome
Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization (summary by Parry et al., 2009).
Oculocutaneous albinism type 7
MedGen UID:
815116
Concept ID:
C3808786
Disease or Syndrome
Oculocutaneous albinism type VII (OCA7) is an autosomal recessive hypopigmentation disorder with predominant eye involvement including nystagmus, iris transillumination, and crossed asymmetry of the cortical visual response (Gronskov et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100).
Hermansky-Pudlak syndrome 8
MedGen UID:
854728
Concept ID:
C3888026
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MedGen UID:
897292
Concept ID:
C4225323
Disease or Syndrome
Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).
Developmental and epileptic encephalopathy, 38
MedGen UID:
934729
Concept ID:
C4310762
Disease or Syndrome
Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by Palmer et al., 2016; Davids et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Intellectual disability, X-linked 106
MedGen UID:
1389156
Concept ID:
C4478379
Mental or Behavioral Dysfunction
Leber congenital amaurosis with early-onset deafness
MedGen UID:
1646810
Concept ID:
C4693498
Disease or Syndrome
Leber congenital amaurosis with early-onset deafness (LCAEOD) is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth (Luscan et al., 2017).
Hypotaurinemic retinal degeneration and cardiomyopathy
MedGen UID:
1779589
Concept ID:
C5542181
Disease or Syndrome
Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020).
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
MedGen UID:
1780157
Concept ID:
C5543257
Disease or Syndrome
SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
MedGen UID:
1794194
Concept ID:
C5561984
Disease or Syndrome
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).
Developmental delay with or without intellectual impairment or behavioral abnormalities
MedGen UID:
1794214
Concept ID:
C5562004
Disease or Syndrome
Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features (Dulovic-Mahlow et al., 2019; van Woerden et al., 2021).
Garg-Mishra progeroid syndrome
MedGen UID:
1847272
Concept ID:
C5882717
Disease or Syndrome
Garg-Mishra progeroid syndrome (GMPGS) is characterized by severe dwarfism, mandibular hypoplasia, microphthalmia, hyperopia, and partial lipodystrophy (summary by Garg et al., 2022).

Professional guidelines

PubMed

Sorkin N, Kaiserman I, Kayal M, Levinger E, Mashour RS, Sela T, Munzer G, Mimouni M
J Refract Surg 2024 Feb;40(2):e73-e78. Epub 2024 Feb 1 doi: 10.3928/1081597X-20231212-06. PMID: 38346124
Alió Del Barrio JL, Milán-Castillo R, Canto-Cerdan M, Molina-Lespron A, Alió JL
J Cataract Refract Surg 2023 Jun 1;49(6):558-564. doi: 10.1097/j.jcrs.0000000000001153. PMID: 36745850
Wang Y, Huang L, Sun L, Li S, Zhang Z, Zhang T, Lai Y, Ding X
Exp Eye Res 2022 Dec;225:109277. Epub 2022 Oct 4 doi: 10.1016/j.exer.2022.109277. PMID: 36206858

Recent clinical studies

Etiology

Morrison AM, Mutti DO
Optom Vis Sci 2023 May 1;100(5):304-311. Epub 2023 Mar 23 doi: 10.1097/OPX.0000000000002011. PMID: 36951871
Alió Del Barrio JL, Milán-Castillo R, Canto-Cerdan M, Molina-Lespron A, Alió JL
J Cataract Refract Surg 2023 Jun 1;49(6):558-564. doi: 10.1097/j.jcrs.0000000000001153. PMID: 36745850
Maguire MG, Ying GS, Ciner EB, Kulp MT, Candy TR, Moore B; Vision in Preschoolers (VIP) Study Group
Optom Vis Sci 2022 Feb 1;99(2):114-120. doi: 10.1097/OPX.0000000000001837. PMID: 34889862Free PMC Article
Alipour F, Veisi Hampa F, Ashrafi E, Dehghani S
J Refract Surg 2018 Feb 1;34(2):106-112. doi: 10.3928/1081597X-20171128-02. PMID: 29425389
Feldman S, Peterseim MMW, Trivedi RH, Edward Wilson M, Cheeseman EW, Papa CE
J Pediatr Ophthalmol Strabismus 2017 May 1;54(3):163-167. Epub 2016 Dec 16 doi: 10.3928/01913913-20161013-05. PMID: 27977035

Diagnosis

Morrison AM, Mutti DO
Optom Vis Sci 2023 May 1;100(5):304-311. Epub 2023 Mar 23 doi: 10.1097/OPX.0000000000002011. PMID: 36951871
Wang Y, Huang L, Sun L, Li S, Zhang Z, Zhang T, Lai Y, Ding X
Exp Eye Res 2022 Dec;225:109277. Epub 2022 Oct 4 doi: 10.1016/j.exer.2022.109277. PMID: 36206858
Maguire MG, Ying GS, Ciner EB, Kulp MT, Candy TR, Moore B; Vision in Preschoolers (VIP) Study Group
Optom Vis Sci 2022 Feb 1;99(2):114-120. doi: 10.1097/OPX.0000000000001837. PMID: 34889862Free PMC Article
Zimmerman DR, Ben-Eli H, Moore B, Toledano M, Stein-Zamir C, Gordon-Shaag A
Isr J Health Policy Res 2019 Sep 12;8(1):70. doi: 10.1186/s13584-019-0339-z. PMID: 31514739Free PMC Article
Feldman S, Peterseim MMW, Trivedi RH, Edward Wilson M, Cheeseman EW, Papa CE
J Pediatr Ophthalmol Strabismus 2017 May 1;54(3):163-167. Epub 2016 Dec 16 doi: 10.3928/01913913-20161013-05. PMID: 27977035

Therapy

Chan JJT, Wong ES, Lam CPS, Yam JC
Hong Kong Med J 2023 Feb;29(1):22-30. doi: 10.12809/hkmj209241. PMID: 36810237
Alió Del Barrio JL, Milán-Castillo R, Canto-Cerdan M, Molina-Lespron A, Alió JL
J Cataract Refract Surg 2023 Jun 1;49(6):558-564. doi: 10.1097/j.jcrs.0000000000001153. PMID: 36745850
Trivizki O, Smadja D, Mimouni M, Levinger S, Levinger E
Eur J Ophthalmol 2019 Jul;29(4):426-430. Epub 2018 Sep 3 doi: 10.1177/1120672118797281. PMID: 30175611
Alipour F, Veisi Hampa F, Ashrafi E, Dehghani S
J Refract Surg 2018 Feb 1;34(2):106-112. doi: 10.3928/1081597X-20171128-02. PMID: 29425389
de Ortueta D, Arba-Mosquera S
Eur J Ophthalmol 2017 Mar 10;27(2):141-152. Epub 2016 Jul 23 doi: 10.5301/ejo.5000835. PMID: 27469426

Prognosis

Colpa L, Khalili S, Kraft S, Bacal D, Hemptinne C, Yuksel D, Cossari A, Mireskandari K
Am J Ophthalmol 2024 Feb;258:130-138. Epub 2023 Jul 29 doi: 10.1016/j.ajo.2023.07.021. PMID: 37517526
Chan JJT, Wong ES, Lam CPS, Yam JC
Hong Kong Med J 2023 Feb;29(1):22-30. doi: 10.12809/hkmj209241. PMID: 36810237
Alió Del Barrio JL, Milán-Castillo R, Canto-Cerdan M, Molina-Lespron A, Alió JL
J Cataract Refract Surg 2023 Jun 1;49(6):558-564. doi: 10.1097/j.jcrs.0000000000001153. PMID: 36745850
Alipour F, Veisi Hampa F, Ashrafi E, Dehghani S
J Refract Surg 2018 Feb 1;34(2):106-112. doi: 10.3928/1081597X-20171128-02. PMID: 29425389
Feldman S, Peterseim MMW, Trivedi RH, Edward Wilson M, Cheeseman EW, Papa CE
J Pediatr Ophthalmol Strabismus 2017 May 1;54(3):163-167. Epub 2016 Dec 16 doi: 10.3928/01913913-20161013-05. PMID: 27977035

Clinical prediction guides

Colpa L, Khalili S, Kraft S, Bacal D, Hemptinne C, Yuksel D, Cossari A, Mireskandari K
Am J Ophthalmol 2024 Feb;258:130-138. Epub 2023 Jul 29 doi: 10.1016/j.ajo.2023.07.021. PMID: 37517526
Lin F, Cheng C, Li M, Liu S, Zhou X
Graefes Arch Clin Exp Ophthalmol 2023 Oct;261(10):3015-3022. Epub 2023 May 18 doi: 10.1007/s00417-023-06097-y. PMID: 37199799
Alió Del Barrio JL, Milán-Castillo R, Canto-Cerdan M, Molina-Lespron A, Alió JL
J Cataract Refract Surg 2023 Jun 1;49(6):558-564. doi: 10.1097/j.jcrs.0000000000001153. PMID: 36745850
Alipour F, Veisi Hampa F, Ashrafi E, Dehghani S
J Refract Surg 2018 Feb 1;34(2):106-112. doi: 10.3928/1081597X-20171128-02. PMID: 29425389
Feldman S, Peterseim MMW, Trivedi RH, Edward Wilson M, Cheeseman EW, Papa CE
J Pediatr Ophthalmol Strabismus 2017 May 1;54(3):163-167. Epub 2016 Dec 16 doi: 10.3928/01913913-20161013-05. PMID: 27977035

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...