Unmeasurable small size superficial and deep foveal avascular zone in nanophthalmos: the Collaborative Nanophthalmos OCTA Study.

AIM: To study the macular structure and vasculature in consecutive nanophthalmic eyes using optical coherence tomography angiography. METHODS: This is a prospective, multicentre, cross-sectional study of patients with nanophthalmos (one or both eyes). The superficial and deep foveal avascular zones (FAZ) were measured both manually and with the machine's built-in automated measurement tool. Correlations between best corrected visual acuity (BCVA), central macular thickness (CMT) and subfoveolar choroidal thickness (SFCT) were calculated. RESULTS: Sixty-five eyes of 35 subjects (16 men and 19 women) with a mean age of 37.4 years were analysed. The mean±SD of refractive error was 14.3±3.2 dioptres, axial length was 16.4±1.6 mm, CMT was 410.2±128.3 µm and SFCT was 450.1±108.3 µm. FAZ was unmeasurable small size in both the superficial and deep capillary plexus in all eyes, along with tortuosity of the superficial foveal capillaries and large vessels. Foveal folds were present in 29 eyes. Disc drusen was detected in 27 eyes and was absent in 31 eyes, while fundus autofluorescence was positive in 17 and negative in 24 eyes. BCVA varied from 20/20 to 20/800, with a mean of 20/76. Using Spearman's correlation, logarithm of the minimum angle of resolution BCVA correlated negatively with axial length (r=-0.30; p=0.015). CONCLUSIONS: FAZ attenuation, capillary tortuosity, foveal folds and thickened subfoveal choroid characterise the nanophthalmic macula. These findings may result from a redundant retina and the absence of apoptotic foveolar retraction because of developmental arrest of the optic vesicle after closure of the embryonic fissure.

Factors affecting the outcome of related allogeneic hematopoietic cell transplantation in patients with Fanconi Anemia.

Hematopoietic cell transplantation (HCT) can cure bone marrow failure in patients with Fanconi Anemia (FA), and it is generally accepted that these patients should receive low-intensity conditioning because of the underlying DNA repair defect in their cells. Outcomes for recipients of matched related HCT have generally been favorable, but only a few studies have scrutinized the factors that may affect the eventual outcome of these patients. This retrospective analysis of 94 pediatric patients with FA who underwent related HCT at King Faisal Specialist Hospital & Research Center was carried out to attempt to identify factors that may affect outcome. Results showed overall survival (OS) probabilities of 92.5%, 89%, and 86% at 1, 5, and 10 years, respectively. In univariate analysis, use of higher dose cyclophosphamide (CY) (60 mg/kg) conditioning was associated with a better 10-year OS than lower dose CY (20 mg/kg) conditioning (91% versus 82%, respectively; P = .035), and use of radiation-containing regimens was associated with a significantly lower 10-year OS than nonradiation regimens (76% versus 91%, respectively; P = .005). Of the 4 regimens used in this study, the fludarabine-based regimen was associated with the highest survival (95.2%; P = .034). The use of the higher dose CY (60 mg/kg) was associated with a significantly increased incidence of hemorrhagic cystitis (HC) (20% versus 5.6% respectively; P = .049). Three patients (3%) developed squamous cell carcinoma (2 oropharyngeal and 1 genitourinary), at 9.4, 5.4, and 13.3 years after HCT; 2 of them had radiation-containing conditioning. In conclusion, our data suggest that although using a higher dose CY (60 mg/kg) conditioning regimen may be associated with better survival, it is also associated with a significantly increased risk of HC. The addition of fludarabine to the low-dose CY (20 mg/kg) is associated with the best survival. On the other hand, radiation-containing regimens are associated with significantly lower survival.