Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary ocular disease and visual impairment

This group includes all kinds of hereditary ophthamological diseases

Systematic

Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Aplasia of lacrimal and salivary glands
FGF10
Fish-eye disease
LCAT
Hereditary glaucoma
Axenfeld-Rieger Anomaly
FOXC1
Modifiers of clinical glaucoma presentation
COL15A1
COL18A1
Nail-patella syndrome
LMX1B
OPA1
Open angle glaucoma 1
Open angle glaucoma 1A
MYOC
Open angle glaucoma 1B
Open angle glaucoma 1C
Open angle glaucoma 1D
Open angle glaucoma 1E
OPTN
Open angle glaucoma 1F
ASB10
Open angle glaucoma 1G
WDR36
Open angle glaucoma 1H
Open angle glaucoma 1I
Open angle glaucoma 1J
Open angle glaucoma 1K
Open angle glaucoma 1L
MYOC
Open angle glaucoma 1M
Open angle glaucoma 1N
Open angle glaucoma 1O
NTF4
Open angle glaucoma 1P
Open angle glaucoma 3
Open angle glaucoma 3A
CYP1B1
Open angle glaucoma 3B
Open angle glaucoma 3C
Open angle glaucoma 3D
LTBP2
IVIC syndrome
SALL4
Knobloch syndrome 1
COL18A1
Lacrimoauriculodentodigital syndrome
FGF10
Ligneous conjunctivitis
PLG
Macular degeneration
Age-related macula degeneration 01
APOE
ARMS2
C2
C3
CFH
CFHR1
CFHR3
KCNT2
Early-onset macula degeneration
FBN2
Manitoba oculotrichoanal syndrome
FREM1
Papillorenal syndrome
PAX2
Retinitis pigmentosa
Retinitis pigmentosa 17
CA4
Retinitis pigmentosa 23
OFD1
Syndromic microphthalmia 6
BMP4
Usher syndrome
Usher syndrome 1D
CDH23
Usher syndrome 1D/F
CDH23
PCDH15
Usher syndrome 1F
PCDH15
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension

References:

1.

Willcock C et al. (2006) Congenital iris ectropion as an indicator of variant aniridia.

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2.

Andréasson S et al. (2006) Developments in molecular genetics and electrophysiology in inherited retinal disorders.

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3.

Michaelides M et al. () Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

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4.

Kannabiran C et al. (2006) TGFBI gene mutations in corneal dystrophies.

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5.

Petzold A et al. (2006) Clinical disorders affecting mesopic vision.

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6.

Paskowitz DM et al. (2006) Light and inherited retinal degeneration.

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7.

Garrity JA et al. (2006) Pathogenesis of graves ophthalmopathy: implications for prediction, prevention, and treatment.

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8.

Yen MY et al. (2006) Leber's hereditary optic neuropathy: a multifactorial disease.

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9.

Pieramici SF et al. (2006) Genetics of corneal dystrophies: the evolving landscape.

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Update: Sept. 26, 2018