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Purpose: To describe 3 cases of an acute zonal occult outer retinopathy-like illness responsive to valacyclovir hydrochloride.Design: Retrospective, interventional case series.Methods: Three patients were treated with valacyclovir and monitored by clinical examination, Goldmann visual field testing, and electroretinography.Results: Patients with an acute zonal occult outer retinopathy-like illness presented following progressive vision loss. This course was immediately reversed by treatment with oral valacyclovir, and visual acuity and visual field improved significantly at 1 week and 1 month. Patients remained stable without treatment during a follow-up period ranging from 1 to 3 years.Conclusions: Some conditions with features of acute zonal occult outer retinopathy may be attributable to a subacute herpetic viral infection that is responsive to oral antiviral medication. [ABSTRACT FROM AUTHOR]

Background: Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the developed world. The study of a rare mendelian form of macular degeneration implicated fibulin genes in the pathogenesis of more common forms of this disease. We evaluated five fibulin genes in a large series of patients with AMD.Methods: We studied 402 patients with AMD and 429 control subjects from the same clinic population. Patients were examined by means of indirect ophthalmoscopy, slit-lamp microscopy, and fundus photography to establish the presence and phenotypic pattern of AMD. DNA samples were screened for sequence variations in five members of the fibulin gene family.Results: Amino acid-altering sequence variations were found in all five fibulin genes, many of which were observed only in patients with AMD. Several of the altered residues have been conserved during evolution. Seven of the 402 patients with AMD had amino acid-altering sequence variations in the fibulin 5 gene, whereas none were observed among 429 control subjects (P<0.01). In addition, these seven patients all had small, circular drusen, which are commonly referred to as basal laminar or cuticular drusen.Conclusions: Missense mutations in the fibulin 5 gene were found in 1.7 percent of patients with AMD. Many variations in other fibulin genes were also found in these patients, and the evolutionary conservation of the affected residues suggests that several of these variations may also be involved in AMD. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate peripapillary retinal nerve fiber layer (RNFL) thickness using spectral-domain optical coherence tomography in patients with autosomal recessive cone-rod dystrophy (CRD).Design: Cross-sectional study.Methods: Eleven patients (22 eyes) with CRD were studied, including 4 patients with identified ABCA4 gene mutations. Peripapillary RNFL thickness was measured in 16 segments from 4 quadrants. The analyses were based on age and disc size-adjusted normative data. An abnormal thinning was considered when RNFL thickness measurements were less than the fifth percentile in at least 2 of 4 segments in a quadrant. Mean RNFL thickness was compared quantitatively with normative data obtained from 134 subjects.Results: Eight patients (73%) had peripapillary RNFL thinning in at least 1 quadrant of at least 1 eye, including 3 of 4 patients with known ABCA4 gene mutations. Peripapillary RNFL thinning in the temporal quadrant was seen most commonly in 11 (79%) of 14 eyes with thinning in at least 1 quadrant. Significant thinning of the overall peripapillary RNFL was observed in CRD patients compared with controls (P = .0002). Subgroup analysis showed that 8 (89%) of 9 patients who were older than 40 years had thinning in at least 1 quadrant of at least 1 eye.Conclusions: Peripapillary RNFL thinning was observed commonly in our patients with autosomal recessive CRD. The results confirm that the inner retinal structures can be affected in outer retinal disease. Careful evaluation of the inner retina may be important in determining the success rate of potential treatments for predominantly outer retinal diseases. [ABSTRACT FROM AUTHOR]