(1) 61% of ocular sarcoidosis presented below sarcoid age. (2) Multinationality together with father's and son's affection indicate a climatic or environmental insult in an already predisposed person. (3) Routine chest X-ray and SACE may not be adequate for diagnosis of ocular sarcoidosis. Gallium should be done in suspected cases. (4) Follow-up for prospects is emphasized.
The authors report a Kuwaiti Arab family in which the father and one of his two sons have severe hypolacrimation with blotchy staining of the cornea and punctate staining of the interpalpebral bulbar conjunctiva by fluorescein and Rose Bengal. Pharmacologic testing together with biochemical analysis and systemic examinations and investigations suggest an isolated dysfunction of lacrimation. The authors' small Arab family differs from the only other recorded pedigree (Irish) in which all five affected members in four generations also had atopy.
Chorioretinal and retinal anomalies, among others, have been described in association with true autosomal recessive microcephaly. Accompanying hypertrophy of retinal pigment epithelium has been described in association with Gardners syndrome.
We present the cases of three siblings (two boys and one girl) with true autosomal recessive microcephaly without mental retardation and without associated systemic anomalies who showed hypertrophy of the retinal pigment epithelium similar to that described in Gardners syndrome. In the boys, these spots were located on a background of fine variations in pigment, with scattered depigmented atrophic areas revealing the sclera in the peripheral and mid peripheral fundus. Superadded white spots were located in front of the retinal vessels. The younger boy also had discrete patches of chorioretinal atrophy of 0.5 to 1 disc diameter. The girl, in addition to the hyperpigmented spots, had a diffuse area of chorioretinal atrophy.
The anomalies described above suggest that congenital hypertrophy of the retinal pigment epithelium is not unique to Gardners syndrome.
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