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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 orbital region
        Hereditary eye diseases
        Aicardi syndrome
        Albinism
        Chédiak-Higashi syndrome
        Aleutian 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
        Piebaldism
        Choroideremia
        Cone dystrophy
        Color vision deficiency
        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 syndrome
        Chorioretinal coloboma
        Inferior chorioretinal coloboma
        Ciliary body coloboma
        Coloboma of optic nerve
        Morning glory syndrome
        Iris coloboma
        Retinal coloboma
        Inferior retinal coloboma
        Treacher Collins syndrome
        Craniofacial microsomia
        Treacher Collins syndrome 1
        Treacher Collins syndrome 2
        Treacher Collins syndrome 3
        Treacher Collins syndrome 4
        Duane retraction syndrome
        Duane retraction syndrome 2
        Duane syndrome type 1
        Familial exudative vitreoretinopathy
        Hereditary corneal dystrophy
        Fuchs endothelial 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
        Cone-rod dystrophy 21
        Genetic Macular Dystrophy
        Hereditary retinal dystrophy
        Pattern dystrophy of the retina
        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 4 syndrome, recessive
        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

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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

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA
Ophthalmology 2017 Sep;124(9):1314-1331. Epub 2017 May 27 doi: 10.1016/j.ophtha.2017.04.008. PMID: 28559085 Free PMC Article

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 (437)

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

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

Lyonization in ophthalmology.

Wuthisiri W, Lingao MD, Capasso JE, Levin AV
Curr Opin Ophthalmol 2013 Sep;24(5):389-97. doi: 10.1097/ICU.0b013e3283641f91. PMID: 23892913

Neuro-ophthalmic genetics.

Kerrison JB, Maumenee IH
Curr Opin Ophthalmol 1997 Dec;8(6):35-40. doi: 10.1097/00055735-199712000-00006. PMID: 10176101

See all (818)

Therapy

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.

Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M
Br J Ophthalmol 2022 Apr;106(4):445-451. Epub 2021 Mar 12 doi: 10.1136/bjophthalmol-2020-318483. PMID: 33712480 Free PMC Article

Optogenetic approaches to vision restoration.

Simunovic MP, Shen W, Lin JY, Protti DA, Lisowski L, Gillies MC
Exp Eye Res 2019 Jan;178:15-26. Epub 2018 Sep 13 doi: 10.1016/j.exer.2018.09.003. PMID: 30218651

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

Adaptive optics imaging of inherited retinal diseases.

Georgiou M, Kalitzeos A, Patterson EJ, Dubra A, Carroll J, Michaelides M
Br J Ophthalmol 2018 Aug;102(8):1028-1035. Epub 2017 Nov 15 doi: 10.1136/bjophthalmol-2017-311328. PMID: 29141905 Free PMC Article

Ophthalmic genetics/inherited eye disease.

Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058

See all (100)

Prognosis

The utility of genomic testing in the ophthalmology clinic: A review.

Burdon KP
Clin Exp Ophthalmol 2021 Aug;49(6):615-625. Epub 2021 Jul 23 doi: 10.1111/ceo.13970. PMID: 34231298

Non-infectious and non-hereditary diseases of the corneal epithelium.

Voss K, Nguyen A, Heur M
Exp Eye Res 2021 Jan;202:108316. Epub 2020 Oct 21 doi: 10.1016/j.exer.2020.108316. PMID: 33098887

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 (269)

Clinical prediction guides

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.

Zhou L, Wang X, An J, Zhang Y, He M, Tang L
Exp Eye Res 2023 Jan;226:109307. Epub 2022 Nov 25 doi: 10.1016/j.exer.2022.109307. PMID: 36442680

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

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.

Gender specific issues in hereditary ocular disorders.

Iragavarapu S, Gorin MB
Curr Eye Res 2015 Feb;40(2):128-45. Epub 2014 Jul 14 doi: 10.3109/02713683.2014.932813. PMID: 25019185

See all (316)

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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