Familial Occurrence of a Severe Phenotype of Central Serous Chorioretinopathy in Two Brothers.

We report the familial occurrence of a severe phenotype of central serous chorioretinopathy (CSC). A 62-year-old man was referred to our institute to treat a macular lesion in his right eye. Best-corrected visual acuity (BCVA) in his right eye was 0.05 (decimal format). On the initial visit, swept-source optical coherence tomography (SS-OCT) demonstrated subretinal hyperreflective material (SHRM) and subretinal fluid involving the central macula in the right eye and a descending tract on fundus autofluorescence (FAF) in the left eye, and fluorescein angiography revealed focal leakage corresponding to choroidal vascular hyperpermeability (CVH) on indocyanine green angiography (ICGA) of the right eye. He received photodynamic therapy (PDT) for the right eye and exudation disappeared. His 66-year-old elder brother had a medical history of CSC in both eyes and had received treatment at our hospital at 61 years old. On the initial presentation, ICGA showed multiple CVH in both eyes, and FAF showed hypofluorescence corresponding to retinal pigment epithelium (RPE) tears and RPE atrophy in both eyes. Bullous retinal detachment (RD) developed inferiorly in both eyes, and a vitrectomy was performed for the right eye to repair RD. The baseline BCVA was 0.3 in both eyes. Two years after the initial visit, recurrent serous RD developed in his left eye, and multiple PDT sessions were performed during the six-year follow-up. A severe phenotype of CSC may be associated with a genetic background.

Characteristics of Craniofacial Morphology and Occlusion in Shwachman-Diamond Syndrome: A Case Report of a Japanese Sibling Pair.

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder mainly caused by mutations in the Shwachman-Bodian-Diamond syndrome gene on chromosome 7q11. Although skeletal abnormalities are a feature of SDS, no reports have focused on the craniofacial morphology of patients with SDS. Moreover, the detailed dental characteristics of SDS remain unknown. In the present case report, we evaluated the craniofacial morphology and dental findings of two patients with SDS. A Japanese adolescent sibling pair with SDS had the chief complaint of excessive overjet. Cephalometric analysis revealed similar craniofacial morphology in both patients: skeletal class I malocclusion with a hypodivergent pattern and labial inclination of the maxillary and mandibular incisors. A panoramic photograph showed the tendency of delayed permanent tooth eruption and replacement in both patients. These cases suggest that malocclusion requiring orthodontic treatment might be a feature of patients with SDS.