Foveal hypoplasia - presenile cataract

General Information (adopted from Orphanet):

Synonyms, Signs: FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES, INCLUDED
O&#39
Donnell-Pappas syndrome
Number of Symptoms 13
OrphanetNr: 2253
OMIM Id: 136520
ICD-10: H26.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
2
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
3
 (HPO:0007819) Presenile cataracts 5 / 7739
4
 (HPO:0006934) Congenital nystagmus 10 / 7739
5
 (HPO:0000505) Visual impairment 297 / 7739
6
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
7
 (HPO:0007750) Hypoplasia of the fovea 11 / 7739
8
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
9
 (HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] 75 / 7739
10
 (OMIM) Subnormal visual acuity 1 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
13
 (OMIM) Peripheral corneal pannus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Foveal hypoplasia, with its sequelae of subnormal visual acuity and congenital nystagmus, is usually a feature of a recognized ocular disorder such as albinism (203100) or aniridia (106210).
Clinical Description OMIM O'Donnell and Pappas (1982) described a family in which 7 persons over 4 generations had mild foveal hypoplasia, presenile cataract (onset before age 40 years), and peripheral corneal pannus. There were 2 instances of male-to-male transmission, suggesting autosomal ...
Molecular genetics OMIM In a family that appeared to have the syndrome of foveal hypoplasia and presenile cataracts, Hanson et al. (1999) identified a mutation in the PAX6 gene (607108.0014).

- Isolated Foveal Hypoplasia

In a family ...