Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies.

Ectodermal dysplasia (ED) is a group of several genetic conditions with absence or dysgenesis of at least two ectodermal derivatives: teeth, skin and its appendages including hair, nails, eccrine and sebaceous glands. The most important clinical findings in patients with ED are hypodontia, hypotrichosis, and hypohidrosis, which can lead to episodes of hyperthermia. Few reports have focused on the progressive keratopathy in ED. Cicatrizing conjunctivitis associated with anti-basement membrane autoantibodies has been described. We report a series of three ectodermal dysplasia patients with an ocular phenotype typically seen in ocular mucous membrane pemphigoid; conjunctival immunohistopathology revealed anti-basement membrane autoantibodies in all of them, and systemic immunosuppression proved to be effective in improving symptoms and helping to stabilize ocular surface disease.

The First Argentinian Family with Familial Amyloidosis of the Finnish Type.

Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing.

Corneal asymmetry analysis by pentacam scheimpflug tomography for keratoconus diagnosis.

PURPOSE: To evaluate intereye corneal asymmetry in Pentacam (Oculus Optikgeräte GmbH, Wetzlar, Germany) indices as a diagnostic method between normal patients and patients with keratoconus. METHODS: A retrospective, observational case series of 177 healthy, 44 indeterminate, and 121 patients with keratoconus classified by Pentacam ectasia detection indices, randomized to analysis and validation datasets. Intereye asymmetry in 20 Scheimpflug tomography corneal descriptors was calculated and compared to develop diagnostic models. RESULTS: Intereye asymmetry was not correlated with anisometropia in healthy controls but was correlated with the ectasia grade of the worse eye in patients with keratoconus. Patients with keratoconus had significantly greater intereye asymmetry in all descriptors except for relational thickness indices. Intereye asymmetry in front elevation at the thinnest corneal location afforded the single highest diagnostic performance (71% sensitivity and 85% specificity), whereas the best multivariate model combining intereye asymmetry in anterior and posterior keratometry, corneal thickness, and front and back elevation at the thinnest point provided 65% sensitivity and 97% specificity. Multivariate models upheld their performance in the validation dataset. Most (more than 90%) indeterminate patients, according to conventional Pentacam analysis, showed within-normal-range corneal asymmetry. CONCLUSIONS: Healthy corneas are markedly symmetric irrespective of anisometropia, but corneal asymmetry analysis does not provide sufficient sensitivity to be used alone for detecting keratoconus. However, its remarkable specificity suggests that it could be used combined with conventional single cornea Pentacam analysis to reduce the false-positive rate or in dubious cases.

Pentacam Scheimpflug tomography findings in topographically normal patients and subclinical keratoconus cases.

PURPOSE: To evaluate Pentacam ectasia detection indices in topographically normal patients and in subclinical keratoconus cases. DESIGN: Prospective, observational case series. METHODS: setting: Institutional. patients: Group 1 comprised 1 eye from 189 patients with unremarkable topography and Groups 2 and 3 included the better and worse eyes, respectively, of 55 keratoconic patients. Group 2 eyes with normal topography (n = 37) were considered subclinical keratoconus cases. observation procedure: Pentacam Scheimpflug tomography. main outcome measures: Eleven Pentacam ectasia detection indices. RESULTS: All Pentacam ectasia indices significantly differed between Groups 1 and 2 and were correlated with keratoconus grade. Only 99 eyes (52%) in Group 1 had normal values for every index, whereas 7 subclinical keratoconus eyes (19%) showed 2 or fewer abnormal indices. Standardized relational thickness and overall deviation indices had 73% and 89% sensitivity for subclinical keratoconus, respectively. Both average and maximum pachymetric progression indices offered 84% sensitivity while maximum relational thickness index showed 78% sensitivity for subclinical keratoconus. Optimized cutoff values for subclinical keratoconus increased the sensitivity of the standardized and maximum relational thickness indices. CONCLUSION: Pentacam Scheimpflug tomography can detect most subclinical keratoconus cases with unremarkable topography, but performance is not as good as reported and varies considerably for each index. The overall deviation, average and maximum pachymetric progression, and maximum relational thickness indices offer the highest sensitivity, which can be improved by using optimized cutoff values. Specificity constitutes an issue for some indices and up to 10% of subclinical keratoconus cases may go undetected by this technology.