A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
- 1 January 1995
- journal article
- case report
- Published by Taylor & Francis Ltd in Ophthalmic Genetics
- Vol. 16 (4), 163-169
- https://doi.org/10.3109/13816819509057858
Abstract
Six members of a family presented with a syndrome of mild facial dysmorphism, subluxation of the crystalline lenses, variable degrees of angle closure by iridocorneal adhesions, and patchy areas of iris atrophy. Three nonoperated eyes of two patients had spontaneous filtering blebs that presented as avascular cystic elevations of the superior conjunctiva. Systemic workup of all patients was negative for evidence of diseases known to be associated with dislocated lenses. The pedigree is most compatible with autosomal recessive inheritance with pseudodominance.Keywords
This publication has 11 references indexed in Scilit:
- Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.Journal of Medical Genetics, 1991
- Spontaneous Filtration Blebs in a Patient With MicrospherophakiaAmerican Journal of Ophthalmology, 1991
- Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin geneNature, 1991
- Location on Chromosome 15 of the Gene Defect Causing Marfan SyndromeThe New England Journal of Medicine, 1990
- Clinical Manifestations of Ectopia Lentis et Pupillae in 16 PatientsOphthalmology, 1988
- Corneal Hydrops in Terrien's Marginal DegenerationOphthalmology, 1986
- Ectopia lentisSurvey of Ophthalmology, 1982
- Isolated congenital ectopia lentis with autosomal dominant inheritanceClinical Genetics, 1979
- Spontaneous Filtering Blebs in Axenfeld SyndromeAmerican Journal of Ophthalmology, 1973
- Mandibulofacial Dysostosis with Ectopia LentisAmerican Journal of Ophthalmology, 1970