Chediak-Higashi syndrome in the cat: prenatal diagnosis by evaluation of amniotic fluid cells.

Chediak-Higashi syndrome (CHS) is an autosomal recessive disease in humans, cats, and 8 other species. The homology of CHS in humans and cats has been demonstrated. Since human CHS is a progressive, serious, and eventually fatal disease, a method for prenatal diagnosis would be desirable.

The recognition and management of albinism.

Albinism is not a single entity but represents a heterogenous group of inherited disorders of pigmentation. Despite a wide variety of manifestations, all forms of albinism are characterized by several ocular features, including: nystagmus, photophobia, reduced visual acuity and a lack of stereopsis. It is the intention of this review to describe and discuss the clinical implications of albinism with particular emphasis placed on these ocular features and their effects on visual performance.

Genetic studies of ocular albinism in a large Virginia kindred.

Nettleship-Falls ocular albinism is an X-linked disorder characterized by variable degrees of impaired visual acuity, nystagmus, and macular hypoplasia in affected males and variable fundus pigmentation but normal acuities in females. Because of extreme variability in clinical manifestation, examination of family members may be necessary to confirm the diagnosis and is essential for genetic counseling purposes. This study reports the pedigree analysis and clinical findings in a large kindred from rural Virginia with 31 males reported to be affected among the 287 individuals in the pedigree.

X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism.

A pedigree of X-linked ocular albinism is presented containing nine affected males and 10 heterozygous females. One carrier female showed ocular changes similar to those of affected males. She is considered to be a manifesting heterozygote, a situation explained by the Lyon hypothesis.

Ocular manifestations of the Chédiak-Higashi syndrome in four species of animals.

Ocular examinations were performed on cattle, cats, mink, and mice affected with Chédiak-Higashi syndrome (CHS). Bovine eyes were examined grossly and with an indirect ophthalmoscope, and Schirmer tear tests were performed. Feline eyes were examined grossly as well as with an indirect opthalmoscope and a slit lamp biomicroscope, and Schirmer tear tests were done on them.

Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.

A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying of the hair, freckled pigmentation of pale skin, hypoplastic heterochromia irides, heterochromia of the ocular fundi, congenital sensorineural hearing loss, and autosomal dominant heredity. This family differs from those previously reported in that none of its members showed dystopia of the inner canthi or lower puncta. In addition, four siblings had the combination of hyperopia-estropia-amblyopia, as well as ocular albinism, manifested by foveal hypoplasia and transilluminable irides.

[Pigment dispersion in a family with albinism (author's transl)].

A report is given on a family wherein two males showed albinism; of the female members, who all had been light blonde in childhood, two were carriers (one of them with pigment changes in the iris and the fundus), a third had no ocular changes, while the fourth showed the typical phenomenon of bilateral idiopathic pigment dispersion without glaucoma. The occurrence of pigment dispersion in a family with albinism has not yet been described. It is regarded as accidental combination.

Ocular correlates of inborn metabolic defects.

The eye provides unique opportunities for the detection, during life, of deposits of storage substances and other characteristic changes resulting from inborn metabolic defects. The cornea shows the macromolecular polysaccharides of Hurler's disease, the cystine crystals in cystinosis, and the copper deposits of Wilson's disease. The sclera shows characteristic pigmentation in alcaptonuria.