María Angélica Henríquez-Recine1, Kelly Sonia Marquina-Lima2, Elena Vallespín-García3, Sixto García-Miñaur3, José Manuel Benitez Del Castillo4, Ana Boto de Los Bueis2. 1. Department of Ophthalmology, La Paz University Hospital, idiPaz, Sor Ángela de la Cruz road, number 9, 7A door, 28020, Madrid, Spain. maria.angelica.h@gmail.com. 2. Department of Ophthalmology, La Paz University Hospital, idiPaz, Sor Ángela de la Cruz road, number 9, 7A door, 28020, Madrid, Spain. 3. Department of Genetics, La Paz University Hospital, idiPaz, Madrid, Spain. 4. Department of Ophthalmology, San Carlos Clinic University Hospital, Madrid, Spain.
Abstract
PURPOSE: To describe and analyze the biomicroscopic features and in vivo confocal microscopy of the crystalline form of pre-Descemet corneal dystrophy (PDCD). METHODS: We examined two non-related families using biomicroscopy, in vivo confocal microscopy, and a genetic study using a gene panel test, looking for mutations in the PIKFYVE gene. RESULTS: A slit-lamp examination of the first family revealed polychromatic crystalline punctiform opacities distributed all over the stroma in 8 of 11 family members in three generations with an autosomal dominant inheritance. The second family showed in three of four members in two generations the same opacities located in the pre-Descemet region. It was also a hint for autosomal dominant inheritance. The in vivo confocal microscopy identified numerous rounded and hyperreflective stromal particles measuring 10-15 μm in diameter, with the highest density in the posterior stroma and with normal keratocytes. No systemic disease was diagnosed. No variants or mutations were identified in PIKFYVE gene. CONCLUSIONS: Polychromatic deposits in patients with Punctiform and Polychromatic Pre-Descemet corneal dystrophy can be located not only in the deep stroma but also in the anterior and middle stroma. Our presentation reveals the possibility of considering this characteristic corneal disorder as a corneal dystrophy of its own and not as a subtype of pre-Descemet corneal dystrophy.
PURPOSE: To describe and analyze the biomicroscopic features and in vivo confocal microscopy of the crystalline form of pre-Descemet corneal dystrophy (PDCD). METHODS: We examined two non-related families using biomicroscopy, in vivo confocal microscopy, and a genetic study using a gene panel test, looking for mutations in the PIKFYVE gene. RESULTS: A slit-lamp examination of the first family revealed polychromatic crystalline punctiform opacities distributed all over the stroma in 8 of 11 family members in three generations with an autosomal dominant inheritance. The second family showed in three of four members in two generations the same opacities located in the pre-Descemet region. It was also a hint for autosomal dominant inheritance. The in vivo confocal microscopy identified numerous rounded and hyperreflective stromal particles measuring 10-15 μm in diameter, with the highest density in the posterior stroma and with normal keratocytes. No systemic disease was diagnosed. No variants or mutations were identified in PIKFYVE gene. CONCLUSIONS:Polychromatic deposits in patients with Punctiform and Polychromatic Pre-Descemet corneal dystrophy can be located not only in the deep stroma but also in the anterior and middle stroma. Our presentation reveals the possibility of considering this characteristic corneal disorder as a corneal dystrophy of its own and not as a subtype of pre-Descemet corneal dystrophy.
Entities:
Keywords:
Corneal crystals; DNA analysis; Differential diagnosis of inherited corneal crystals; In vivo confocal microscopy; Pre-Descemet corneal dystrophy
Authors: Jayne S Weiss; Hans Ulrik Møller; Anthony J Aldave; Berthold Seitz; Cecilie Bredrup; Tero Kivelä; Francis L Munier; Christopher J Rapuano; Kanwal K Nischal; Eung Kweon Kim; John Sutphin; Massimo Busin; Antoine Labbé; Kenneth R Kenyon; Shigeru Kinoshita; Walter Lisch Journal: Cornea Date: 2015-02 Impact factor: 2.651
Authors: Jorge L Alió Del Barrio; Doug D Chung; Olena Al-Shymali; Alice Barrington; Kavya Jatavallabhula; Vinay S Swamy; Pilar Yébana; Maria Angélica Henríquez-Recine; Ana Boto-de-Los-Bueis; Jorge L Alió; Anthony J Aldave Journal: Am J Ophthalmol Date: 2019-11-27 Impact factor: 5.258