BACKGROUND: To investigate the efficacy and safety of repeated phototherapeutic keratectomies (PTKs) during long-term treatment for corneal dystrophy (CD) in a Chinese pedigree carrying the R124L mutation in TGFBI.
METHODS: This was a retrospective review of 20-year medical and genetic records involving five CD patients (10 eyes) from one pedigree. During this period, PTK was conducted for an eye when best-corrected distance visual acuity (BCDVA) reached > 1.0 (LogMAR), due to either primary or recurrent opacities in the cornea. All PTKs were performed by 193-nm excimer laser with or without creation of epithelial flaps. For each eye, routine measurements were conducted for the number of PTKs during follow-up, mean time to recurrence, and BCDVA pre- and post- every PTK (measurements within 3 months from each PTK). Corneal thicknesses measured after the last PTK and at the last visit were analyzed, and subjective satisfaction was assessed.
RESULTS: Gene testing revealed an R124L mutation in TGFBI. During 19.60 ± 1.78 years of follow-up, PTKs were conducted twice for three eyes, three times for six eyes, and four times for one eye. After each PTK, effective visual acuity was maintained for 3.60 ± 1.12 years before significant recurrence. BCDVA improved significantly postoperatively than preoperatively for the first PTK for each eye (p < 0.001), as well as the second (p < 0.001) and third one (p < 0.001). After the last PTK and at the final visit, the thinnest corneal thickness was 371.50 ± 56.47 μm and 358.40 ± 101.11 μm, respectively. The average subjective satisfaction score was 8.60 ± 0.89.
CONCLUSIONS: Multiple repeated PTKs were effective and safe in a long-term study of CD patients with an R124L mutation in TGFBI.

The article presents a clinical case of Fabry\'s disease accompanied by changes in the eye and gives detailed description of standard ophthalmological examination and results of some modern methods of assessing macro- and micro-structure of certain ocular tissues. Fabry\'s disease (also known as Anderson-Fabry disease, diffuse angiokeratoma of the body, hereditary dystonic lipidosis) is a progressive hereditary multi-systemic disease; more specifically, it is a progressive congenital defect in the metabolism of tissues of the human body. It is included in the list of orphan diseases. One of its local manifestations is development of dystrophic changes in the structure of the cornea with tendency to progress. Early diagnosis of Fabry\'s disease is crucial, but its extensive and \'mixed\' symptoms often mask the true causes of pathological changes, which leads to late diagnosis.
В статье приведен клинический случай болезни Фабри, сопровождающийся изменениями глаз. Подробно описаны данные стандартного клинического офтальмологического обследования и результаты некоторых современных методов оценки макро- и микроструктуры ряда тканей глаза. Болезнь Фабри (болезнь Андерсона-Фабри, диффузная ангиокератома тела, наследственный дистонический липидоз) - прогрессирующее наследственное мультисистемное заболевание, которое представляет собой прогрессирующий врожденный дефект метаболизма тканей человеческого организма и входит в перечень орфанных заболеваний. Развитие дистрофических изменений в структуре роговицы является одним из локальных проявлений. Данные признаки могут иметь тенденцию к прогрессированию. Ранняя диагностика болезни Фабри крайне важна, но обширная, \'смешанная\' симптоматика часто маскирует истинные причины патологических изменений. Это приводит к позднему установлению правильного диагноза.

OBJECTIVE: To characterise the corneal deposits of macular corneal dystrophy and correlate with high-resolution optical coherence tomography (OCT).
METHODS: A total of 23 eyes of 15 patients were evaluated for clinical features on slit lamp biomicroscopy, and high-resolution OCT was performed to correlate the clinical findings. The deposits were characterised based upon their location and level in the corneal layers.
RESULTS: Mean age was 31.5 (Range 20-67) years. The stromal deposits were restricted to central 8 mm in 9 eyes; in the rest of the 14 eyes, the deposits were seen in both central and peripheral cornea. In one patient, no such distinction could be made due to diffuse nature of the deposits throughout the cornea with sparing of 1-2 mm of the cornea internal to the limbus. The central deposits were in the anterior stromal layers, while the peripheral deposits were in the deep stromal corneal layers and non-contiguous with the anterior stromal deposits. In one patient aged 67 years, the peripheral deposits in deep corneal layers were more prominent than the central anterior stromal deposits and were associated with a significant thickening of Descemet membrane.
CONCLUSIONS: MCD exhibits a clinically diverse presentation as revealed on the clinical and optical coherence tomography study. Immunophenotype and genotype-phenotype correlation may further help in understanding various clinical presentations of MCD.