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Hereditary eye diseases

MedGen UID:: 41933
•Concept ID:: C0015398
•: Disease or Syndrome

Synonyms:

Eye Disease, Hereditary; Eye Diseases, Hereditary; Hereditary Eye Disease; Hereditary Eye Diseases

Definition

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary eye diseases

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of eye region
        Hereditary eye diseases
        Aicardi syndrome
        Albinism
        Chédiak-Higashi syndrome
        Aleutian mink disease
        Ocular albinism
        Ocular albinism with late-onset sensorineural deafness
        Ocular albinism, type I
        Oculocutaneous albinism
        Hermansky-Pudlak syndrome
        Oculocutaneous albinism type 1
        Oculocutaneous albinism type 3
        Oculocutaneous albinism type 4
        Oculocutaneous albinism type 5
        Oculocutaneous albinism type 6
        Oculocutaneous albinism type 7
        Oculocutaneous albinism type 8
        Tyrosinase-negative oculocutaneous albinism
        Tyrosinase-positive oculocutaneous albinism
        Partial albinism
        Choroideremia
        Cone dystrophy
        Color vision deficiency
        Cone/cone-rod dystrophy
        Progressive cone degeneration
        Congenital aniridia
        11p partial monosomy syndrome
        Isolated aniridia
        Aniridia 1
        Aniridia 2
        Aniridia 3
        Syndromic aniridia
        Aniridia - intellectual disability syndrome
        Aniridia-absent patella syndrome
        Aniridia-ptosis-intellectual disability-familial obesity syndrome
        Aniridia-renal agenesis-psychomotor retardation syndrome
        Gillespie syndrome
        Congenital ocular coloboma
        CHARGE association
        Chorioretinal coloboma
        Inferior chorioretinal coloboma
        Ciliary body coloboma
        Coloboma of optic nerve
        Morning glory anomaly
        Iris coloboma
        Retinal coloboma
        Inferior retinal coloboma
        Treacher Collins syndrome
        Craniofacial microsomia
        Treacher Collins syndrome 1
        Treacher Collins syndrome 2
        Treacher Collins syndrome 3
        Duane anomaly
        Duane retraction syndrome 2
        Duane syndrome type 1
        Familial exudative vitreoretinopathy
        Hereditary corneal dystrophy
        Fuchs corneal dystrophy
        Meesmann corneal dystrophy
        Corneal dystrophy, Meesmann, 1
        Corneal dystrophy, Meesmann, 2
        Hereditary optic atrophy
        Autosomal dominant optic atrophy classic form
        Dominant hereditary optic atrophy
        Autosomal dominant optic atrophy and peripheral neuropathy
        Autosomal dominant optic atrophy plus syndrome
        Optic atrophy 3
        Leber optic atrophy
        Wolfram syndrome
        Wolfram syndrome 1
        Wolfram syndrome 2
        Wolfram syndrome, mitochondrial form
        Leber congenital amaurosis
        Leber congenital amaurosis 1
        Leber congenital amaurosis 2
        Leber congenital amaurosis 3
        Leber congenital amaurosis 4
        Leber congenital amaurosis 5
        Leber congenital amaurosis 6
        Leber congenital amaurosis 7
        Leber congenital amaurosis 8
        Leber congenital amaurosis 9
        Leber congenital amaurosis 10
        Leber congenital amaurosis 11
        Leber congenital amaurosis 12
        Leber congenital amaurosis 13
        Leber congenital amaurosis 14
        Leber congenital amaurosis 15
        Leber congenital amaurosis 16
        Optic nerve hypoplasia
        Isolated optic nerve hypoplasia
        Septo-optic dysplasia sequence
        Unilateral Optic Nerve Hypoplasia
        Ornithine aminotransferase deficiency
        Retinal degeneration
        Macular degeneration
        Age-related macular degeneration
        Cystoid macular degeneration
        Foveal degeneration
        Geographic atrophy
        Macular edema
        Stargardt disease
        Vitelliform macular dystrophy
        Wet macular degeneration
        Peripheral retinal degeneration
        Lattice retinal degeneration
        Peripheral cystoid retinal degeneration
        Retinal atrophy
        Macular atrophy
        Peripheral retinal atrophy
        Retinal pigment epithelial atrophy
        Retinal drusen
        Retinal dystrophy
        Chorioretinal dystrophy
        Hereditary macular dystrophy
        Hereditary retinal dystrophy
        Pattern dystrophy of the retina
        Retinal dystrophy with early macular involvement
        Retinitis pigmentosa
        Rod-cone dystrophy
        Retinitis pigmentosa inversa
        Retinoschisis
        Foveoschisis
        Retinal dysplasia
        Retinoblastoma
        bilateral retinoblastoma
        Differentiated Retinoblastoma
        Diffuse Retinoblastoma
        Extraocular retinoblastoma
        Pediatric extraocular retinoblastoma
        Hereditary retinoblastoma
        Intraocular retinoblastoma
        Pediatric intraocular retinoblastoma
        Non-hereditary retinoblastoma
        Recurrent Retinoblastoma
        Retinoblastoma by AJCC v8 Stage
        Retinoblastoma by AJCC v8 Clinical Stage
        Retinoblastoma by AJCC v8 Pathologic Stage
        Sporadic Retinoblastoma
        Trilateral retinoblastoma
        Undifferentiated Retinoblastoma
        Unilateral retinoblastoma
        Thyroid eye disease
        Walker-Warburg congenital muscular dystrophy
        Weill-Marchesani syndrome
        Weill-Marchesani syndrome 1
        Weill-Marchesani syndrome 3
        Weill-Marchesani syndrome 2, dominant

Professional guidelines

PubMed

Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.

Xu X, Wang P, Jia X, Sun W, Li S, Xiao X, Hejtmancik JF, Zhang Q
Mol Genet Genomics 2021 Jul;296(4):845-862. Epub 2021 Apr 21 doi: 10.1007/s00438-021-01783-0. PMID: 33884488

See all (1)

Recent clinical studies

Etiology

Dominant Stickler Syndrome.

Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP
Genes (Basel) 2022 Jun 18;13(6) doi: 10.3390/genes13061089. PMID: 35741851 Free PMC Article

Axenfeld-Rieger syndrome.

Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279

Epidemiology of blindness in children.

Solebo AL, Teoh L, Rahi J
Arch Dis Child 2017 Sep;102(9):853-857. Epub 2017 May 2 doi: 10.1136/archdischild-2016-310532. PMID: 28465303

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Familial exudative vitreoretinopathy and related retinopathies.

Gilmour DF
Eye (Lond) 2015 Jan;29(1):1-14. Epub 2014 Oct 17 doi: 10.1038/eye.2014.70. PMID: 25323851 Free PMC Article

See all (411)

Diagnosis

Congenital alacrima.

Zhao Z, Allen RC
Orbit 2022 Apr;41(2):162-169. Epub 2021 Sep 5 doi: 10.1080/01676830.2021.1974057. PMID: 34486478

Intracranial hypertension: a current review.

Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410

Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management.

Tauqeer Z, Yonekawa Y
Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):176-182. Epub 2018 Apr 9 doi: 10.22608/APO.201855. PMID: 29633588

Axenfeld-Rieger syndrome.

Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279

Epidemiology of blindness in children.

Solebo AL, Teoh L, Rahi J
Arch Dis Child 2017 Sep;102(9):853-857. Epub 2017 May 2 doi: 10.1136/archdischild-2016-310532. PMID: 28465303

See all (775)

Therapy

Freedman SF, Beck AD, Nizam A, Vanderveen DK, Plager DA, Morrison DG, Drews-Botsch CD, Lambert SR; Infant Aphakia Treatment Study Group
JAMA Ophthalmol 2021 Feb 1;139(2):165-173. doi: 10.1001/jamaophthalmol.2020.5664. PMID: 33331850 Free PMC Article

Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.

Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764 Free PMC Article

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.

Garafalo AV, Cideciyan AV, Héon E, Sheplock R, Pearson A, WeiYang Yu C, Sumaroka A, Aguirre GD, Jacobson SG
Prog Retin Eye Res 2020 Jul;77:100827. Epub 2019 Dec 30 doi: 10.1016/j.preteyeres.2019.100827. PMID: 31899291 Free PMC Article

Intracranial hypertension: a current review.

Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410

Rhegmatogenous retinal detachment--an ophthalmologic emergency.

Feltgen N, Walter P
Dtsch Arztebl Int 2014 Jan 6;111(1-2):12-21; quiz 22. doi: 10.3238/arztebl.2014.0012. PMID: 24565273 Free PMC Article

See all (96)

Prognosis

Congenital Stationary Night Blindness: Clinical and Genetic Features.

Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK
Int J Mol Sci 2022 Nov 29;23(23) doi: 10.3390/ijms232314965. PMID: 36499293 Free PMC Article

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.

Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259

Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema.

Sibony PA, Kupersmith MJ, Kardon RH
J Neuroophthalmol 2021 Mar 1;41(1):77-92. doi: 10.1097/WNO.0000000000001078. PMID: 32909979 Free PMC Article

Intracranial hypertension: a current review.

Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

See all (256)

Clinical prediction guides

Congenital Stationary Night Blindness: Clinical and Genetic Features.

Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.

Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764 Free PMC Article

Intracranial hypertension: a current review.

Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410

Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes.

Khan KN, Mahroo OA, Khan RS, Mohamed MD, McKibbin M, Bird A, Michaelides M, Tufail A, Moore AT
Prog Retin Eye Res 2016 Jul;53:70-106. Epub 2016 May 10 doi: 10.1016/j.preteyeres.2016.04.008. PMID: 27173377

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

See all (294)

Recent systematic reviews

Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals.

Wang X, Chen J, Xiong H, Yu X
PLoS One 2022;17(7):e0271326. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0271326. PMID: 35830446 Free PMC Article

Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.

Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764 Free PMC Article

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.

Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712 Free PMC Article

Vitamin A and fish oils for retinitis pigmentosa.

Rayapudi S, Schwartz SG, Wang X, Chavis P
Cochrane Database Syst Rev 2013 Dec 19;2013(12):CD008428. doi: 10.1002/14651858.CD008428.pub2. PMID: 24357340 Free PMC Article

See all (4)

MedGen

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Send to:

Hereditary eye diseases

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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