[Familial nanophthalmos]

Microphthalmos is a rare, potentially devastating condition. Catsch found 30 cases of microphthalmos in a population of 26,735 (0.11%); Scouras et al. among 120,000 ophthalmic out-patients found 70 cases of microphthalmos (0.058%); among 3,557 blind adults Lindstedt found 63 cases (1.77%) and Kissel et al. among 210,000 ophthalmic out-patients found 97 cases (0.046%). Congenital microphthalmos may be: colobomatous, complicated, pure. Pure microphthalmos or nanophthalmos is a rare condition in which the eye is reduced in size with a notably high ratio of the lens volume to eye volume, but no other congenital anomalies are present. The sclera is abnormally thick. Nanophthalmos may be sporadic or hereditary: hereditary transmission may be either recessive or dominant. These eyes are anatomically predisposition to angle-closure glaucoma and occasionally associated with uveal effusion. Angle-closure glaucoma probably is the result of the natural increase in the size of the lens with age; in addition, spontaneous choroidal detachment probably may cause elevation and forward rotation of the ciliary body pushing the lens-iris diaphragm forward, with increasing of the relative pupillary block. The uveal effusion probably is the result of choroidal congestion secondary to obstruction of vortex veins by abnormally thickened sclera. Uveal effusion may also occurs spontaneously in patients with nanophthalmos between the ages of 40 to 60 years. Surgical intervention with sudden decompression of the globe, appears to aggravate the degree of uveal effusion. Three cases of familial nanophthalmos associated with angle-closure glaucoma without uveal effusion not microcornea are reported. The occurrence of nanophthalmos in the same family suggests an autosomal recessive inheritance.(ABSTRACT TRUNCATED AT 250 WORDS)