Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease.

PURPOSE: To describe two patients with bilateral ptosis, ophthalmoplegia, cataracts and corneal endothelial disease requiring corneal transplantation. OBSERVATIONS: Histopathological analysis of muscle biopsy samples from both patients identified features consistent with a mitochondrial cytopathy. A single multigenic mitochondrial deoxyribonucleic acid (DNA) deletion was detected in the first patient. Pathogenic mutations in the POLG gene which codes for mitochondrial DNA polymerase, tasked with replicating the mitochondrial genome were identified in the second patient. CONCLUSION: The collection of clinical features present in both cases described can be explained by a diagnosis of mitochondrial disease. IMPORTANCE: Corneal endothelial disease, in addition to ptosis, ophthalmoplegia, cataract, pigmentary retinopathy and optic atrophy should be recognised as a feature of mitochondrial disease.

Prevalence of Orbscan II corneal abnormalities in relatives of patients with keratoconus.

BACKGROUND: To determine the prevalence of Orbscan II-derived keratoconus traits in relations of individuals with keratoconus and a control group and to apply these to a pedigree analysis. METHODS: In a controlled, prospective, observational case series, four Orbscan II-derived corneal parameters were examined in relations of individuals with keratoconus and a control group of low myopes (<2.5 D). The four parameters and thresholds for abnormality (derived from a literature review) were as follows: average keratometry (> or =47.2 D), I-S value (> or =1.2 D), posterior float apex (> or =42 microm) and thinnest pachymetry (< or =463 microm). RESULTS: Forty-four unrelated controls (88 eyes) and eight families with 90 members without known (178 eyes) and 11 members with keratoconus (19 eyes) were analysed. One of 88 (1.14%) control eyes had a single keratoconus trait, and none had more than one trait. Of 178 eyes from relatives of patients with keratoconus, 45 (25.3%) had one or more keratoconus traits. Relatives of patients with keratoconus had an elevated risk of possessing a keratoconus trait (relative risk 14.67, CI 2.07-104.07, P < 0.001) compared with controls. Approximately 53.3% of relatives with a keratoconus trait were evident on either pachymetric or posterior elevation indices alone. Six of eight families suggested dominant inheritance. CONCLUSIONS: Keratoconus traits are common in relatives of patients with keratoconus. There prevalence may have been previously underestimated by using placido image-based topography alone where corneal pachymetry and posterior elevation are not assessed. This study suggests an autosomal dominant pattern of inheritance with variable expressivity in some families.

Recent advances in corneal transplantation for keratoconus.

From the rise of modern corneal graft surgery in the late 1950s until recently, corneal transplantation for keratoconus almost exclusively consisted of a full-thickness transplant, termed penetrating keratoplasty. This technique involved the removal of all of the layers of the patient's central cornea and replacement with a full-thickness graft. Over approximately the past 20 years, a quiet revolution has occurred with the development of several other types of corneal transplantation surgery for keratoconus. In addition to full thickness grafts, several different types of partial thickness, lamellar grafts, have been developed and are viable alternatives to a full-thickness graft in selected patients. The main aim of these lamellar grafts is to selectively replace the corneal stroma, leaving intact the patient's own Desçemet's membrane and endothelial cells, the main target of allograft transplant rejection. In this article, we review the current options with regard to corneal transplantation for keratoconus and review the evidence comparing newer and more established techniques.

Bilateral epibulbar xanthomas--a case report.

PURPOSE: To report bilateral epibulbar xanthomatous lesions in an adult with a normal serum lipid profile and no cutaneous or systemic features of a histiocytic disease. METHODS: Clinicopathologic report. RESULTS: A 44-year-old man presented with gradually enlarging yellow epibulbar masses in both eyes. The lesions had recurred after excisions performed 2 years previously. Systemic evaluation was normal. Excisional biopsies were performed, and histological examination revealed numerous foamy histiocytes with scattered Touton giant cells and lymphocytes. No recurrence was observed after 1 year of follow-up. CONCLUSION: Xanthomatous epibulbar lesions are exceedingly rare and may occur as an isolated finding. Evaluation should be directed toward detecting underlying non-Langerhans cell histiocytic diseases and disorders of lipid metabolism. Recurrent lesions may be successfully treated by surgical excision.