Bietti crystalline retinal dystrophy is a rare, inherited disorder whose hallmark is the presence of retinal crystal deposits associated with later chorioretinal degeneration. This condition may rarely be complicated by the development of cystoid macular oedema leading to rapid visual decline. Currently, treatment options for this complication of Bietti dystrophy are limited and the visual prog...

The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and...

PURPOSE To report the outcomes of penetrating keratoplasty (PKP) in patients with macular corneal dystrophy (MCD). METHODS This retrospective case series includes consecutive patients with MCD who underwent PKP from 1986 to 2006 with at least 6 months' follow-up. Main outcome measures included best spectacle-corrected visual acuity (BSCVA), postoperative astigmatism and graft survival. RESU...

PURPOSE A 5-bp deletion in ELOVL4, a photoreceptor-specific gene, has been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystrophy. This has been the only mutation identified in ELOVL4 to date, which is associated with macular d...

Dystrophic is the adjective pertaining to, or characterized by dystrophy. It applies to any degenerative disorder resulting from inadequate nutrition, or more specifi cally to muscular dystrophy. Amyotrophy is another closely related word, meaning literally lack of muscle growth or nourishment, but often used imprecisely or loosely to mean acquired muscle wasting, e.g. neuralgic amyotrophy, dia...

PURPOSE To evaluate mutations in the carbohydrate sulfotransferase-6 (CHST6) gene in American subjects with macular corneal dystrophy (MCD). METHODS We analyzed CHST6 in 57 patients from 31 families with MCD from the United States, 57 carriers (parents or children), and 27 unaffected blood relatives of affected subjects. We compared the observed nucleotide sequences with those found by numero...

PURPOSE Identification of mutations in the CHST6 gene in 15 patients from 11 unrelated families affected with recessive macular corneal dystrophy (MCD). METHODS Genomic DNA was extracted from peripheral blood leukocytes of the affected patients and their healthy family members, and the mutational status of the CHST6 gene was determined for each patient by a PCR-sequencing approach. Serum conc...

PURPOSE To describe the morphologic features of Fuchs corneal dystrophy and compare them with those of bullous keratopathy. METHODS This was an observational case series. The study group consisted of 32 corneal buttons with a diagnosis of Fuchs dystrophy and the comparison group consisted of 22 corneal buttons with bullous keratopathy. Morphologic analysis was performed of corneal buttons fro...

IN the complete form of this familial syndrome males suffer from corneal dystrophy, congenital ichthyosis (ichthyosis simplex), and allergic manifestations such as asthma and hay fever. The complete syndrome was noted in two patients. Other male members had corneal dystrophy and allergy, corneal dystrophy and ichthyosis, ichthyosis alone, ichthyosis and allergy, or asthma (Fig. 1). Except for t...