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Adult-onset night blindness

MedGen UID:
870346
•Concept ID:
C4024790
•
Disease or Syndrome
HPO: HP:0007830

Definition

Inability to see well at night or in poor light with onset in adulthood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Adult-onset night blindness

Conditions with this feature

Retinitis pigmentosa 7
MedGen UID:
334168
•Concept ID:
C1842475
•
Disease or Syndrome
A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.
See: Condition Record
Late-onset retinal degeneration
MedGen UID:
344198
•Concept ID:
C1854065
•
Disease or Syndrome
Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003).
See: Condition Record
Late-onset retinal degeneration
Retinitis pigmentosa 7

Recent clinical studies

Etiology

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene.
Nakamura N, Tsunoda K, Mitsutake A, Shibata S, Mano T, Nagashima Y, Ishiura H, Iwata A, Toda T, Tsuji S, Sawamura H
Invest Ophthalmol Vis Sci 2020 Sep 1;61(11):27. doi: 10.1167/iovs.61.11.27. PMID: 32931575Free PMC Article
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR
Ophthalmology 2011 Aug;118(8):1661-70. Epub 2011 Apr 29 doi: 10.1016/j.ophtha.2010.12.031. PMID: 21529959

Diagnosis

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene.
Nakamura N, Tsunoda K, Mitsutake A, Shibata S, Mano T, Nagashima Y, Ishiura H, Iwata A, Toda T, Tsuji S, Sawamura H
Invest Ophthalmol Vis Sci 2020 Sep 1;61(11):27. doi: 10.1167/iovs.61.11.27. PMID: 32931575Free PMC Article
Case of adult-onset neuronal intranuclear hyaline inclusion disease with negative electroretinogram.
Yamada W, Takekoshi A, Ishida K, Mochizuki K, Sone J, Sobue G, Hayashi Y, Inuzuka T, Miyake Y
Doc Ophthalmol 2017 Jun;134(3):221-226. Epub 2017 Mar 22 doi: 10.1007/s10633-017-9584-z. PMID: 28332008
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR
Ophthalmology 2011 Aug;118(8):1661-70. Epub 2011 Apr 29 doi: 10.1016/j.ophtha.2010.12.031. PMID: 21529959
Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene.
Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J
Jpn J Ophthalmol 2001 Nov-Dec;45(6):672-6. doi: 10.1016/s0021-5155(01)00425-7. PMID: 11754917

Prognosis

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene.
Nakamura N, Tsunoda K, Mitsutake A, Shibata S, Mano T, Nagashima Y, Ishiura H, Iwata A, Toda T, Tsuji S, Sawamura H
Invest Ophthalmol Vis Sci 2020 Sep 1;61(11):27. doi: 10.1167/iovs.61.11.27. PMID: 32931575Free PMC Article
Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene.
Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J
Jpn J Ophthalmol 2001 Nov-Dec;45(6):672-6. doi: 10.1016/s0021-5155(01)00425-7. PMID: 11754917

Clinical prediction guides

Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene.
Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J
Jpn J Ophthalmol 2001 Nov-Dec;45(6):672-6. doi: 10.1016/s0021-5155(01)00425-7. PMID: 11754917

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