Choroidal findings in idiopathic uveal effusion syndrome.

PURPOSE: We report choroidal findings by means of enhanced depth imaging spectral-domain optical coherence tomography (EDI-OCT) in a patient with idiopathic uveal effusion syndrome (IUES). CASE REPORT: A 41-year-old man was referred to us with ciliochoroidal and non-rhegmatogenous retinal detachments. Sclerectomies and sclerostomies were performed at the equator in the lower quadrants, resulting in resolution of the ciliochoroidal and retinal detachments. EDI-OCT demonstrated low-reflective areas in the outer choroid. The subfoveal choroidal thickness measured vertically from the outer border of the RPE to the inner border of the sclera was 787 µm which was significantly thicker than the normal value (272 ± 90 µm, n = 131) obtained from age-matched normal controls. CONCLUSIONS: The findings made by EDI-OCT have provided additional evidence that choroidal alterations play a role in the pathological process in IUES.

Melanoma-associated retinopathy associated with intranasal melanoma.

PURPOSE: To present a case of melanoma-associated retinopathy (MAR) associated with an intranasal melanoma. CASE REPORT: A 77-year-old Japanese man visited us complaining of night blindness, blurred vision, and color vision difficulties in both eyes. His best-corrected visual acuity was 0.7 in the right and 1.0 in the left eyes. The rod response of the electroretinogram (ERG) was abolished, and the maximum response had a negative waveform. The a-wave of the single-flash cone response was square shaped, and the b-wave was delayed. The ON-response of the long-flash cone ERG was absent, but the OFF-response was preserved. A severe loss of retinal sensitivity was detected by static perimetry. Positron emission tomography showed no abnormal signs. Six months after the initial examination, an intranasal tumor was detected and surgically removed. The final diagnosis based on histopathology was malignant melanoma. CONCLUSION: Our case demonstrates that MAR can be associated with an intranasal mucosal melanoma. Thus, in cases where the primary lesion cannot be identified in patients with MAR-like symptoms and signs, we recommend that preferential sites of mucosal melanomas be examined.

Monozygotic twins with polypoidal choroidal vasuculopathy.

PURPOSE: To present the first findings in the set of monozygotic twins with polypoidal choroidopathy (PCV). METHODS: Sixty two-year old monozygotic twin sisters were studied. The concordances and discordances of the clinical features of the twins were determined. Genomic DNA was extracted and genotyped for three established PCV risk-associated single nucleotide polymorphisms, viz CFH I62V, CFH Y402H, and ARMS A69S. RESULTS: Both patients had hemorrhagic pigment epithelial detachments with orange lesions beneath the retinal pigment epithelium. Indocyanine green angiography showed pathognomonic choroidal vascular networks with polypoidal structures uniocularly in one twin and binocularly in the other twin. Both twins were treated with photodynamic therapy, retinal photocoagulation, and anti-vascular endothelial growth factor therapy, but both showed limited response to all the treatments, with recurrent exudative lesions with enlarged vascular network, and poor visual outcome. Genetic analyses showed that both sisters had homozygous risk alleles for ARMS2 A69S, and one risk allele each of CFH I62V and CFH Y402H. CONCLUSIONS: We present the first findings in a set of monozygotic twins with typical PCV under long-term observation. The concordances in disease progression and response to treatment between the twins indicate that these genetic factors most likely played important roles in determining the clinical manifestations.