Mental retardation in amaurosis congenita of Leber.

A group of 229 patients with Leber's congenital amaurosis (ACL) was investigated for associated defects. We especially looked for the occurrence of mental retardation because the literature gives varying frequencies for this association. A percentage of 19.

Biometry in X linked megalocornea: pathognomonic findings.

Biometric study in a series of 11 affected males provides characteristic findings. The patients present with a large cornea with short radius, very deep anterior chamber depth (AC depth) exceeding the normal mean value of plus 2 SD, and a short vitreous length. Calculation of the postlimbal depth, a method applied in this study to obtain information about positioning of the iris and the lens, reveals a posterior positioning of the iris and lens.

DNA carrier detection in X-linked progressive cone dystrophy.

X-linked progressive cone dystrophy (XLPCD) is characterized by progressive macular atrophy, abnormal colour vision, reduced cone responses in ERG, and reduced visual acuity. XLPCD may be genetically heterogeneous. Therefore, carrier detections by DNA analysis may only be carried out in those families in which the position of the gene locus can be clearly established.

X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis.

Six affected males, three female carriers, and two possible carriers were evaluated from a three generation pedigree with X linked progressive cone dystrophy. The affected males presented with progressive decrease of visual acuity, impairment of colour vision, and deterioration of electroretinogram, which ranged from absent response to red light in all young patients to abnormal cone-rod responses in the elderly ones. In most affected males dark adaptation curves were monophasic and the electro-oculogram values were reduced.

Goniodysgenesis in familial primary open-angle glaucoma.

Results of a pilot study to evaluate goniodysgenesis as a cause of familial open-angle glaucoma are reported. Patients with a familial high tension open-angle glaucoma and a goniodysgenetic chamber angle (n = 11), a number of their relatives with glaucoma (n = 12), and their relatives without glaucoma (n = 26) were compared to a group of normals (n = 120). Eight characteristics of goniodysgenesis were scored and summed into a total goniodysgenesis-score for each chamber angle examined, a higher score corresponding to a more dysgenetic chamber angle.