Preferred Label : Microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : In a sibship of 7 without parental consanguinity, Franceschetti and Gernet (1965)
found 4 (3 males, 1 female) with marked microphthalmia diagnosed by ultrasound, with
cornea of normal size. Associated ocular features were high-grade hyperopia, macrophakia,
retinal degeneration reminiscent of fundus albipunctatus (136880) or fundus flavimaculatus
(see 248200), hemeralopia, and glaucoma. All 4 affected individuals had extremely
poor dentition; the sister had full dentures by 31 years of age. *FIELD* RF 1. Franceschetti,
A.; Gernet, H.: Diagnostic ultrasonique d'une microphtalmie sans microcornee, avec
macrophakie, haute hypermetropie associee a une degenerescence tapeto-retinienne,
une disposition glaucomateuse et des anomalies dentaires (nouveau syndrome familial).
Arch. Ophtal. Rev. Gen. Ophtal. (Paris) 25: 105-116, 1965. *FIELD* CS;
Inheritance : Autosomal recessive;
Prefixed ID : 251700;
Origin ID : 251700;
UMLS CUI : C1968637;
Automatic exact mappings (from CISMeF team)
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
