Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy

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.

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Change history

  • 04 March 2019

    In the original publication, presentation of the following author names are incorrect in the HTML version.

  • 04 March 2019

    In the original publication, presentation of the following author names are incorrect in the HTML version.

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Authors

Corresponding author

Correspondence to María Angélica Henríquez Recine.

Ethics declarations

All procedures performed were in accordance with the ethical standards of the institutional research committee (La Paz University Hospital Ethics Committee) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

Conflict of interest

The authors declare that they have no conflict of interest.

Electronic supplementary material

First family proband in vivo confocal microscopy: In this sequence we can observe the stromal deposits from the anterior to the predescemetic stromal layers. The epithelium and endothelium were normal and Bowman’s membrane is not affected. (MP4 1074 kb)

417_2018_3993_MOESM2_ESM.mp4

Second family proband in vivo confocal microscopy: In this sequence we can appreciate the stromal deposits only in the predescemetic layer. (MP4 3762 kb)

Video 2.

Second family proband in vivo confocal microscopy: In this sequence we can appreciate the stromal deposits only in the predescemetic layer. (MP4 3762 kb)

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Recine, M.A.H., Lima, K.S.M., García, E.V. et al. Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy. Graefes Arch Clin Exp Ophthalmol 256, 1661–1667 (2018). https://doi.org/10.1007/s00417-018-3993-x

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Keywords

  • Corneal crystals
  • Pre-Descemet corneal dystrophy
  • Differential diagnosis of inherited corneal crystals
  • DNA analysis
  • In vivo confocal microscopy