Coloboma of the lens is characterized by notching of the equator of the lens. The cause of the condition is faulty development of the zonule. The lens deprived of its normal pull in the defective region is thicker and more spherical as if there were no loss of its substance. We report five cases of lens coloboma and localized zonular defect without any associated systemic anomalies. One case included retinal detachment; another included an iris coloboma; and a third included iris, choroid and optic disk colobomas and retinal detachment with lens coloboma. The remaining two cases were without associated ocular anomalies. The pathogenic mechanisms and relationship of this defect with the differentiation of the tertiary vitreous and development of the zonule is discussed. The defect most likely occurs in the third to fourth months of gestation during differentiation of the tertiary vitreous in response to toxic, inflammatory or genetic factors.

Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare disorder which is diagnosed primarily because of the typical fundoscopic appearance of retinal pigment epithelial (RPE) atrophy and clumping in a paravenous distribution. A mildly affected and asymptomatic 54-year-old mother and her mildly affected daughter and severely affected son presented with pigmented paravenous chorioretinal atrophy. The severely affected (proband) 28-year-old man manifested the characteristic paravenous chorioretinal atrophy with pigment clusters in both eyes with macular involvement. Besides the characteristic fundus picture, he also had chronic angle closure glaucoma. His 23-year-old sister presented with unilateral involvement. Her right eye showed focal perivenular retinal pigment epithelial hyperplasia at the 2 o'clock position and dilated, tortuous retinal veins, while her left eye had only dilated and tortuous retinal veins. Both patients were hyperopic. Their mother had an area of chorioretinal atrophy in one eye near a retinal vein. The scotopic ERG responses were markedly abnormal in the male patient, while his sister had a mild decrease in amplitude of both a and b waves in both eyes. One of the children of an unaffected family member was found to have dilated and tortuous retinal veins and hyperopia (III-12). To our knowledge, this is the fourth report of familial occurrence of pigmented paravenous chorioretinal atrophy. The present pedigree is compatible with X-linked recessive or dominant inheritance.

SUMMARYImmune response to retinal autoantigens plays a central role in the pathogenesis of uveitis. A synthetic peptide (B27PD) from a common sequence of various HLA-B molecules associated with uveitis, such as HLA-B27 and 51, which shares amino acid homologies with a retinal-S antigen (S-Ag)-derived peptide (PDSAg), was shown to be immunogenic in human and experimental uveitis in the rat. In this study we investigated T cell responses to B27PD and PDSAg in patients with Behc Ëet's disease and posterior uveitis (BD-posterior uveitis; n 33) in comparison with non-Behc Ëet anterior uveitis (AU, n 14), Behc Ëet's patients without uveitis (BD, n 15) and healthy controls (HC, n 32) in a 6-day proliferation assay. Patients with BD and posterior uveitis had significantly higher responses (stimulation index (SI) 2´8^1´3) than those with AU (SI 1´5^0´4), BD without uveitis (SI 1´1^0´4) and HC (SI 1´1^0´6) for B27PD (P , 0´0001). Responses to PDSAg were also higher in BD with posterior uveitis patients (SI 3´3^1´6) than AU (SI 1´5^0´4), BD without uveitis (SI 1´2^0´3) and HC (SI 1´1^0´6) (P , 0´0001). A significant correlation between the responses to PDSAg and B27PD (r 0´56, P , 0´001) was observed. Elevated levels of IL-2 and tumour necrosis factor-alpha were also observed in culture supernatants obtained from peripheral blood mononuclear cells after stimulation with the peptides, but no correlation was found between the proliferative responses and cytokine levels. These results suggest that cellular immunity to cross-reactive HLA-B and S-Ag-derived peptides might play a role in the pathogenesis of posterior uveitis in BD.

Aim. To examine subscale and total scores of NEI-VFQ questionnaire of type 2 diabetes patients at different diabetic retinopathy (DRP) stages. Methods. A total number of 201 patients have been included. Prior to ophthalmological examination all patients participated in the NEI-VFQ questionnaire. The patients were divided into 5 groups according to the International Clinical Diabetic Retinopathy Disease Severity Scale (ICDRS). Results. The diabetes duration in general health scores (p = 0.029); the stage (p = 0.011); and clinically significant macular edema (CSME) (p = 0.019) in general vision were found to be the most efficient factors. In near vision activities the most efficient factors were near vision acuity (NVA) (p = 0.0001) and DRP stage (p = 0.020). EDTRS visual acuity was found to be the most efficient factor in vision specific role difficulties (p = 0.034) and dependency (p = 0.011) whereas Snellen visual acuity was found to be among the most effective factors in distance activities (DA) (p = 0.014) and total scores (p = 0.026). Discussion. Difference was based not on the diabetes duration, clinically significant cataract (CSCat), CSME presence, and DRP stage but on the visual acuity levels of the better seeing eye of the patients.

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