Chiara Pierrottet

Correlation between the progression of optic disc and visual field changes in glaucoma

Visual field test and optic disc evaluation are the standard examination techniques used to detect the onset and progression of glaucoma. This explorative study was performed to assess the temporal correlation between visual field and optic disc changes in eyes with ocular hypertension and well-established glaucoma. Eighty-six hypertensive and 16 glaucomatous eyes were followed up for a period of up to 9 years (average 4.4 yrs) using kinetic and computerized static perimetry and optic disc manual morphometry. Perimetric changes were based on a series of strict criteria and optic disc changes were based as a reduction in the baseline rim area/disc area ratio (R/D) measurement exceeding the 99% confidence interval for intraobserver reproducibility (7.7%). Optic disc changes were found prior to visual field changes in four hypertensive eyes, whereas visual field changes were found prior to disc changes in six glaucomatous eyes (p = 0.042). The results of our explorative study suggest that quantitative optic disc analysis may be more sensitive than visual field examination in detecting early glaucomatous changes, whereas visual field examination may be more sensitive than quantitative optic disc analysis in detecting glaucomatous progressions in eyes with well established glaucoma.

A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular dystrophy sporadic case

PURPOSE To report the molecular characterization of a novel VMD2 mutation causing a Best macular dystrophy sporadic case. METHODS All family members underwent ophthalmologic examination and genetic testing by single strand conformation polymorphism analysis and direct sequencing of the VMD2 gene. RESULTS A single T to G transition at nucleotide 663 was identified in one of the VMD2 gene copies of the patient, which results in a Cys to Trp substitution at position 221 in the corresponding protein (C221W). Sequence analysis of the VMD2 exon 6 of both parents of the patient did not reveal any mutation. CONCLUSION These data confirm the involvement of the VMD2 gene in Best macular dystrophy onset, even in sporadic cases of the disease, pointing out the relevance of molecular analysis in the diagnosis of this degenerative retinal disease.

Long-term treatment of retinitis pigmentosa with acetazolamide. A pilot study

The therapeutic effect of long-term treatment with acetazolamide (from 3 weeks to 16 months) of seven patients with retinitis pigmentosa was studied. Improvement in visual acuity was found in almost all the eyes, accompanied by an improvement in the macular threshold in two patients. The therapeutic effect was independent of reduction of macular edema, as judged by fluorescein angiography.

Preserved para-arteriolar retinal pigment epithelium retinitis pigmentosa.

In two patients, we studied retinitis pigmentosa with preservation of the retinal pigment epithelium adjacent to and under the retinal arterioles (despite panretinal degeneration). Both patients with preserved para-arteriolar retinal pigment epithelium also exhibited a peculiarly strong hyperopia. In addition to previously reported features, these patients also had sheathing of the major vascular arcades, which suggested a vascular involvement in this uncommon form of retinitis pigmentosa.

Diagnostic assessment of normal and pale optic nerve heads by confocal scanning laser ophthalmoscope and stereophotography

PurposeTo evaluate the diagnostic assessment of optic nerve heads (ONH) by stereophotography (SP) and Heidelberg retina tomograph (HRT) in patients with retinitis pigmentosa (RP). MethodsThis study involved 53 consecutive patients with RP and 24 controls who underwent ONH examination by SP and HRT. On the basis of the appearance at SP, RP ONH were divided in normal-colored (24/53) and pale (29/53). The measurements of vertical ONH diameter and vertical cup/disc ratio (VCDR) by SP and HRT were compared between the groups by means of t test and Bland-Altman plots. Diagnosis, ONH pallor and size, HRT image quality (image standard deviation, SD) were also inspected as sources of differences in the results by means of a multivariate analysis. ResultsVertical diameter measurements were similar using SP and HRT, respectively (1.93±0.50 and 1.80±0.62 for normal-colored ONH, P=0.43; 2.02±0.65 and 1.90±0.40 for pale ONH, P=0.27; and 1.98±0.55 and 1.84±0.52 for controls, P=0.33). In normal-colored ONH, VCDR was 0.30±0.11 at SP and 0.31±0.21 at HRT (P=0.90); in controls, it was 0.29±0.13 at SP and 0.30±0.18 at HRT (P=0.77). In the group with pale ONH, VCDR was 0.34±0.14 at SP and 0.53±0.24 at HRT (P<0.001). HRT image quality was the only parameter which influenced the difference in VCDR estimates between SP and HRT (P=0.02). In patients with pale ONH, this difference was significantly higher, when images of acceptable quality were used for analysis (0.36±0.15 vs. 0.15±0.21 for images with good quality or better, P=0.03). ConclusionsIn ONH diseases other than glaucoma, HRT may give misleading information when images of acceptable quality are considered for analysis. We therefore recommend the use of images with good quality or better (SD ⩽30 &mgr;m) in these cases.