Three-year Follow-up of Progressive Chorioretinal Atrophy in Atypical Alagille Syndrome: a Case Report.

PURPOSE: To report a case of atypical Alagille syndrome (ALGS) with progressive chorioretinal atrophy. METHODS: Case report. RESULTS: A 42-year-old Japanese man presented with atypical ALGS. At the first visit, funduscopy revealed anterior circumferential chorioretinal atrophy in peripheral retina and in peripapillary region with posterior pole sparing in both eyes. Fundus autofluorescence (FAF) showed hypoautofluorescence in the peripheral and peripapillary regions, but normal findings in the macular region. After follow-up for three years, hypopigmentated area with well visualized large choroidal vessels extended to mid-peripheral region. On FAF images, hypoautofluorescence newly appeared in macular region in both eyes. Perivascular hypoautofluorescence and granular hyperautofluorescence scattering within the posterior pole were also observed. BCVA deteriorated and concentric visual field contraction worsened progressively. CONCLUSION: ALGS is known to have many ophthalmic manifestations, most of which are stable with minimal threat to vision. In the present case, chorioretinal atrophy progressed during three-year follow-up, suggesting that progression of chorioretinal atrophy with vision loss may occur over time in ALGS.

Bilateral Serous Retinal Detachment in Lymphoid Blast Crisis of Chronic Myeloid Leukemia.

We herein report a patient with Philadelphia chromosome-positive lymphoid blast crisis of chronic myeloid leukemia (CML), who presented with bilateral serous retinal detachment (SRD). A 36-year-old Asian male presented with the symptoms of decreased vision and was found to have bilateral SRD involving fovea. There was no inflammation in the anterior chamber or vitreous. Physical examination showed hepatomegaly and splenomegaly. A blood count revealed white blood cell count of 38.2 × 109/L with 51.5% blast cells. Bone marrow aspirate showed total cell count of 145 × 103/µL with 80.6% blast cells and negative neutrophil myeloperoxidase staining. Cytogenetic analysis using fluorescence in situ hybridization confirmed a 9;22 chromosomal translocation, indicating the presence of the Philadelphia chromosome. Flow cytometry analysis demonstrated expression of CD10, CD19, and positive TdT. According to morphology, immunology, cytogenetics, and molecular criteria, the patient was diagnosed as having Philadelphia chromosome-positive lymphoid blast crisis of CML. Based on the ocular findings and hematological abnormalities, the SRD was considered to be ocular involvement secondary to the blast crisis of leukemia. Two months after starting induction therapy, fundus examination and optical coherence tomography showed complete resolution of bilateral SRD and improved vision. Prompt diagnosis of the disease leads to early systemic chemotherapy and may help restore visual function and improve survival.