Congenital cataract with microcornea and Peters’ anomaly as expressions of one autosomal dominant gene

Abstract

Hereditary congenital cataract is a well recognized but heterogeneous group of disorders; the cataracts may occur alone, or with other ocular or systemic abnormalities, and with all three common modes of inheritance. Peters' anomaly has usually been regarded as a sporadic condition with an insignificant risk of recurrence. A family is described in which congenital cataracts with microcornea, and Peters' anomaly, appear to be variable expressions of a generalized anterior segment disorder inherited as an autosomal dominant condition.

laminin alpha 1gene is essential for normal lens development in zebrafish

“…A primary defect may be the lens degeneration due to developmental arrest that causes collapse of the surrounding ocular tissue (reduction in eye size) and abnormal patterning of the anterior segment structures (cornea defects). Similar associations between lens defects, small eye and malformed anterior chamber have been previously reported [50-58]. At the same time, the visible corneal defects may indicate a discrete function of lama1 in the development of the anterior segment structures.…”

Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts

“…In one pedigree, the Nance-Horan syndrome has been weakly linked to the DXS85 locus [Zhu and Maumenee, 1988;Zhu et al, 19891 and in another to the DXS43 locus [Bond et al, 19891 on the distal short arm of the chromosome X in patients with the Nance-Horan syndrome. Many reports of linkage analysis of autoso-ma1 dominant congenital cataracts exist in the literature [Renwick and Lawler, 1963;Conneally et al, 1978;Huntzinger et al, 1978;Lyon et al, 1981;Carper et al, 1982;Cebon and West, 1982;Richard et al, 1984;Garber et al, 1985;Bateman et al, 1986;Green and Johnson, 1986;Muggleton-Harris et al, 1987;Barrett et al, 19881; however, none describe the cerulean cataract. No (z 5 -2.0) for all informative marker loci to include BF, ESD, HP, PGP, and C-3 at 8 = 0.01; for PGD, GLO, and JK at 8 = 0.05; for PGM-1, RH, ACP, MNS, ABO, and AK at e = 0.10; and for GC a t e = 0.20.…”

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

“…In 1986, we first reported a family with an autosomal dominant form of ASD with the proband exhibiting Peters anomaly. 16 This four generation family from Newfoundland has had extensive clinical assessment over the course of 30 years, revealing a progression over time of the ASD phenotype in affected family members. For example, the father of the proband (PID-II-14) had mild cataracts at the age of 7 and required cataract extractions at the ages of 39 and 40 because of decreasing visual acuity.…”

“…16 Long-term clinical and ophthalmological examination on family members has since been carried out (Table 1), and has included visual acuity measurements, refraction, direct and indirect ophthalmoscopy, slit lamp examination, tonometry, gonioscopy, corneal diameter measurements, axial length measurements (ultrasound), and external eye photographs as previously described. 16 In all, 31 of 66 known family members have participated in this study, and of these, we have identified 11 cases of ASD across six sibships ( Figure 1). Because of the variability of ocular phenotypes seen in this family, we conducted repeated, complete slit lamp examination of the cornea, iris, angle and lens, and measurement of the corneal diameter on a number of individuals.…”

“…16 In this paper, we present the progression of the ocular phenotype in this family observed over a 30-year period and describe the functional candidate approach used to determine the causative gene.…”