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The authors studied 35 patients with Leber's congenital amaurosis and assessed visual acuity, fundus appearance, and systemic findings. The patients were arbitrarily divided into five age groups. Visual acuities were comparable at all ages. Of 22 patients seen for follow-up examinations (mean length of follow-up, 5 years), vision worsened slightly in only 4 patients (3 with macular coloboma-like lesions and 1 with keratoconus). Fifty percent of retinal examinations in patients younger than 1 year of age were normal. With increasing age, retinal pigmentary changes became evident. All but four patients seen on more than one occasion developed progressive retinal/retinal pigment epithelium changes. Cataracts (5 patients) and keratoconus (3 patients) were present only in older patients (9 to 33 years of age). In Leber's congenital amaurosis, which probably comprises a number of genetically heterogenous conditions, visual acuity remains stable despite progressive retinal pigmentary changes. The subgroup of patients with macular colobomas, however, may develop progressive decrease in vision. Cataracts and keratoconus are additional factors contributing to visual impairment in older patients.

The ocular findings in 108 patients representative of all types of mucopolysaccharidoses (MPS) were reviewed. Attention was focused on optic nerve head appearance. Optic nerve head swelling was observed in 8/14 eyes of MPS 1-Hurler (MPS 1-H); 9/21 MPS 1-Hurler-Scheie (MPS 1-H-S); 0/4 MPS I-S; 13/66 MPS II; 1/22 MPS III; 0/58 MPS IV; 5/12 MPS VI; and 2/2 MPS VII eyes. In three patients, optic nerve head swelling was present in one eye and optic atrophy in the fellow eye; in four patients, optic atrophy followed disc elevation; three patients presented with bilateral optic atrophy. It was concluded that optic nerve head swelling precedes the development of optic atrophy in the systemic MPS.

The authors report the first clinicopathologic study of autosomal-dominant fundus flavimaculatus with late-onset atrophic macular degeneration in a 62-year-old man. Results of histopathologic examination disclosed the retinal pigment epithelium (RPE) to be distended by a periodic acid-Schiff (PAS)-positive, acid mucopolysaccharide-negative material. Transmission electron microscopy showed marked accumulation of lipofuscin and melanolipofuscin granules within the RPE. The different modes of genetic transmission and ultrastructural heterogeneity suggest that fundus flavimaculatus is a clinical syndrome representing several genetically and mechanistically distinct disorders whose common end-stage is a topographically similar accumulation of lipofuscin.

Even though lenticular and retinal abnormalities seem to dominate the ophthalmologic picture in Marfan's syndrome, the cornea shows significant abnormalities consisting of a striking flattening and corneal astigmatism. The use of conjunctival biopsies followed by histochemical and electron-microscopic evaluation shows low morbidity but an excellent yield of diagnostic information on storage diseases, and an ectopic collagen may be the basis of at least one type of keratoconus. Much more work has to be done on defining the collagens of the human eye in embryologic, fetal, and postnatal stages under normal and pathologic conditions. The yield of such studies may be high for an understanding of such diseases as myopia, retinal detachment, and keratoconus.

We evaluated the clinical efficacy of treating various dry-eye disorders using 0.01% and 0.1% (weight/weight) topical all-trans retinoic acid ointment. Twenty-two patients were selected and classified into four major groups: keratoconjunctivitis sicca (6 patients; 11 eyes), Stevens-Johnson syndrome (9 patients; 17 eyes), ocular pemphigoid or drug-induced pseudopemphigoid (3 patients; 6 eyes), and surgery or radiation-induced dry eye (4 patients; 4 eyes), based on the criterion that they remained symptomatic even under maximum tolerable conventional medical and/or surgical therapies. The results indicated that squamous metaplasia with mucin deficiency secondary to goblet cell loss and keratinization may be the basis for the development of clinical symptoms and morbidities, as these epithelial abnormalities were invariably present before treatment. After treatment, all patients demonstrated clinical improvements in symptoms, visual acuity, rose Bengal staining, or Schirmer test. Most importantly, this topical vitamin A treatment caused the reversal of squamous metaplasia as evidenced by impression cytology. Therefore, this treatment may represent the first nonsurgical attempt to treat these disorders by reversing diseased ocular surface epithelium.

The authors studied pigmented ocular fundus lesions in three different forms of hereditary gastrointestinal polyposis and in hereditary nonpolyposis colorectal cancer. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) was present in at least one member of 23 families with Gardner's syndrome. By contrast, CHRPE was not found in three families with familial polyposis coli, four families with hereditary nonpolyposis colorectal cancer, and three families with Peutz-Jeghers syndrome. Pigmented ocular fundus lesions of the CHRPE-type appear to be specific to Gardner's syndrome among inherited diseases with gastrointestinal polyposis.

A case of mucopolysaccharidosis, Type II-A (Hunter syndrome, severe) is described, with emphasis on ocular ultrastructural findings. Single membrane-bound structures containing fibrillogranular and, less commonly, multi-membranous material were found in conjunctival epithelium, pericytes and fibrocytes; corneal epithelium, keratocytes, and endothelium; trabecular endothelium; iris pigmented epithelium, smooth muscle, and fibrocytes; ciliary pigmented and nonpigmented epithelium and fibrocytes; retinal pigment epithelium and ganglion cells; optic nerve astrocytes and pericytes; and sclerocytes. The most striking accumulation was in the nonpigmented ciliary epithelium. These findings are compared with those seen in MPS II-B, and in other systemic mucopolysaccharidoses. The nature and distribution of inclusions are not specific to any one disorder, but help to signal the presence of one of the storage disorders. Distension of corneal keratocytes may play a role in the corneal clouding seen in some of these disorders. The importance of tissue examination, especially conjunctival biopsy, in the diagnosis of storage disorders and in assessment of future modes of therapy for the mucopolysaccharidoses is discussed.

The ophthalmologic findings in 15 patients with childhood adrenoleukodystrophy (ALD) are reviewed. In this X-linked demyelinating disease with adrenal dysfunction, relentlessly progressive visual loss followed by optic atrophy occurs months to years after the diagnosis is established based on neurologic symptoms and biochemical abnormalities. Visual loss is mainly due to central nervous system (CNS) demyelination involving the visual tracts, but primary retinal ganglion cell degeneration may also be operative. All patients in this study were male. Vision ranged from 20/20 to no light perception (NLP). All but one patient with bilateral cataracts had normal anterior segment examinations. Seven patients had exotropia, and esotropia developed in one patient. Electroretinography (ERG) and electrooculography (EOG) findings were normal in two patients with severe visual loss. Macular pigmentary changes were observed in three patients. Optic pallor was noticed in seven patients. Optic nerve hypoplasia was seen in one patient. Visual-evoked responses were abnormal in two patients and borderline in one. Progressive visual field abnormalities were noticed in three patients, large field cuts in two patients, and normal fields in another two patients. The diagnosis of ALD should be considered in all boys presenting with unexplained visual loss, dementia, and adrenal dysfunction.

We studied the eyes of a 51-year-old man with the clinical diagnosis of fundus flavimaculatus without macular involvement by light and electron microscopy. Scanning and transmission electron microscopy revealed elevated aggregates of enlarged retinal pigment epithelial cells with apices distended by accumulated lipid membranes with a tubulo-vesicular appearance. Histochemical and ultrastructural studies failed to demonstrate abnormal accumulation of lipofuscin or acid mucopolysaccharide. The disorder, known clinically as fundus flavimaculatus, may represent two or more metabolic disorders of the retinal pigment epithelium characterized by distinct histochemical and ultrastructural features.

A total of 12-different types of hereditary cataracts have been positively assigned to the gene map. They are located on autosomes as well as on the X chromosome. This establishes several kinds of cataracts as distinct diseases caused by different mutations. In selected cases the information may be helpful for prenatal diagnosis.