PURPOSE: To clinically and molecularly characterize a group of @entity1 with progressive @entity1358 ( @entity1358 ) due to @entity2372 ( @entity2372 ), but with minimally affected irides. DESIGN: Retrospective case series. @entity1 : A total of 12 eyes of 6 @entity1 who underwent keratolimbal allograft (KLAL) for @entity2372 in the absence of the classic stigmata of @entity6716 at the Cincinnati Eye Institute/University of Cincinnati between 2000 and 2007. METHODS: Retrospective chart review. MAIN OUTCOME MEASURES: Ocular surface stability after KLAL and change in visual acuity. RESULTS: Subjects' mean age was 32.57 years, 66% were female, and mean follow-up was 64.4 months (range, 20-115 months). All @entity1 presented with a decline in their vision secondary to @entity1358 . Average preoperative best-corrected visual acuity (BCVA) logarithm of the minimum angle of resolution (logMAR) was 1.4 (range, 0.10-2.8). All @entity1 had minimally affected irides with subtle abnormal findings, including ectropion uveae and stromal @entity194 . All @entity1 developed severe @entity1358 and required KLAL. Average postoperative logMAR BCVA was 0.35 (range, 0.00-1.00). All ocular surfaces remained stable throughout the follow-up period. Family history consistent with autosomal dominant inheritance was positive in 4 of 6 @entity1 . @entity6484 genetic testing identified 2 pathologic mutations and 1 possible disease-causing variant. CONCLUSIONS: @entity2372 may present in the absence of other classic stigmata of @entity6716 and be associated with minimally affected irides. A subset of these @entity1 has definitive mutations in @entity6484 and once identified can be counseled appropriately. These @entity1 respond well to KLAL and may therefore benefit from early detection.

XXXX variant: minimally abnormal irides with severe @entity1358 .

@entity1 :: ('9606', 'Species') :: ['patients', 'PARTICIPANTS'] @entity2372 :: ('MESH:C562399', 'Disease') :: ['aniridic keratopathy', 'AK', 'Aniridic keratopathy'] @entity6716 :: ('MESH:D015783', 'Disease') :: ['aniridia'] @entity1358 :: ('MESH:D002292', 'Disease') :: ['LSCD', 'limbal stem cell deficiency'] @entity6484 :: ('5080', 'Gene') :: ['PAX6'] @entity194 :: ('MESH:D001284', 'Disease') :: ['atrophy']
@entity6716 :: (MESH:D015783,Disease) :: ['Congenital aniridia']
