Movement of the inner retina complex during the development of primary full-thickness macular holes: implications for hypotheses of pathogenesis.

BACKGROUND: The inner retinal complex is a well-defined layer in spectral-domain OCT scans of the retina. The central edge of this layer at the fovea provides anatomical landmarks that can be observed in serial OCT scans of developing full-thickness macular holes (FTMH). Measurement of the movement of these points may clarify the mechanism of FTMH formation. METHOD: This is a retrospective study of primary FTMH that had a sequence of two OCT scans showing progression of the hole. Measurements were made of the dimensions of the hole, including measurements using the central edge of the inner retinal complex (CEIRC) as markers. The inner retinal separation (distance between the CEIRC across the centre of the fovea) and the Height-IRS (average height of CEIRC above the retinal pigment epithelium) were measured. RESULTS: Eighteen cases were identified in 17 patients. The average increase in the base diameter (368 microns) and the average increase in minimum linear dimension (187 microns) were much larger than the average increase in the inner retinal separation (73 microns). The average increase in Height-IRS was 103 microns. CONCLUSION: The tangential separation of the outer retina to produce the macular hole is much larger than the tangential separation of the inner retinal layers. A model based on the histology of the Muller cells at the fovea is proposed to explain the findings of this study.

Asymmetric vitreomacular traction and symmetrical full thickness macular hole formation.

BACKGROUND: A Full Thickness Macular Hole (FTMH) is often associated with vitreomacular traction, and this can be asymmetric with vitreomacular traction on one side of the hole but not the other. In cross-section, the elevated retinal rim around a developed FTMH is seen as a drawbridge elevation, and this drawbridge elevation may be used as a measure of morphological change. Examination of the drawbridge elevation of the retinal rim in FTMH with asymmetric vitreomacular traction may help to clarify the role of vitreomacular traction in the development of FTMH. METHOD: Cases of FTMH were identified with an initial OCT scan showing vitreomacular traction on one side of the hole only and that had a follow-up OCT scan showing progression of the hole. A tangent to the retinal surface at a distance of 700 microns from the axis of the hole was used as a marker of the drawbridge elevation of the retinal rim around the macular hole. Comparisons of the drawbridge elevation and change in drawbridge elevation between the sides with and without initial vitreomacular traction were made. RESULTS: There was no significant difference between the drawbridge elevation, or change in drawbridge elevation, on the side of the hole with initial vitreomacular traction compared to the side without initial traction. CONCLUSION: There is some intrinsic mechanism within the retina to link the morphological changes on the two sides of a FTMH. A bistable hypothesis of FTMH formation and closure is postulated to explain this linkage.

Monovision: a refractive consideration in cataract surgery after vitrectomy?

Cataract is the most common complication of vitrectomising surgery in the phakic eye. Progressive nuclear sclerosis (NS) causes a myopic shift. This change in refractive status can predispose to the development of monovision in presbyopic individuals. Recognition of adaptation to monovision is important when undertaking sequential cataract surgery. Our case describes a patient whose adaptation to monovision was only recognised after its reversal. Predisposing factors are discussed and lessons highlighted.

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.

OBJECTIVES: To report the genetic basis of Leber congenital amaurosis (LCA) in northern Pakistan and to describe the phenotype. METHODS: DNA from 14 families was analyzed using single-nucleotide polymorphism and microsatellite genotyping and direct sequencing to determine the genes and mutations involved. The history and examination findings from 64 affected individuals were analyzed to show genotype-phenotype correlation and phenotypic progression. RESULTS: Homozygous mutations were found in RPGRIP1 (4 families), AIPL1 and LCA5 (3 families each), and RPE65, CRB1, and TULP1 (1 family each). Six of the mutations are novel. An additional family demonstrated linkage to the LCA9 locus. Visual acuity, severe keratoconus, cataract, and macular atrophy were the most helpful features in predicting the genotype. Many of the phenotypic variables became more prevalent with increasing age. CONCLUSIONS: Leber congenital amaurosis in northern Pakistan is genetically heterogeneous. Mutations in RPGRIP1, AIPL1, and LCA5 accounted for disease in 10 of the 14 families. This study illustrates the differences in phenotype, for both the anterior and posterior segments, seen between patients with identical or different mutations in the LCA genes and also suggests that at least some of the phenotypic variation is age dependent. CLINICAL RELEVANCE: The LCA phenotype, especially one including different generations in the same family, may be used to refine a molecular diagnostic strategy.