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Gelatinous drop-like corneal dystrophy: for professionals

Clinical phenotype

Incidence
  • 1: 300,000 in Japan, rarer elsewhere
Corneal Features
  • Progressive phenotype—gradual accumulation of amyloid between the epithelium and stroma[1]
  • Sub-epithelial grey opacities (first decade)
  • Band keratopathy
  • Gelatinous mulberry-shaped opacities
  • Multi-globular orange “kumquat-like” appearance (end stage)
  • May be accompanied by secondary corneal neovascularisation
Symptoms
  • Disease onset in the first decade of life with irritation, redness and tearing
  • Recurrent corneal erosions initially eventually progressing to severe visual loss
A close up image of a cornea with yellowish deposits throughout and blood vessels growing into the cornea. There are multiple small lesions in the middle that look like water droplets.
A yellowish appearance of sub-epithelial amyloid deposition and secondary neovascularisation. There are numerous elevated ‘drop-like’ changes on the corneal surface (arrows).

Credit: Mr Stephen Tuft, consultant ophthalmologist, Moorfields Eye Hospital, London

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Genetics

Gene (OMIM no.) and associated function
  • TACSTD2 (#137290)[2]
  • Specific protein function unknown
  • Increased permeability of the corneal epithelial cell junction underlies the pathogenic mechanism of GDCD[3]
Inheritance pattern

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Key investigations

  • Anterior segment OCT (AS-OCT) or Scheimpflug imaging (Pentacam) — To assess corneal shape and thickness
  • AS-OCT — Dense, hyper-reflective nodules at the level of the basal epithelial layer[4]

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Diagnosis

Gelatinous drop-like corneal dystrophy can be diagnosed clinically. Genetic testing can be undertaken to confirm the diagnosis, facilitate genetic counselling, provide accurate advice on prognosis and future family planning, and aid in clinical trial participation.

This can be achieved through a variety of next generation sequencing (NGS) methods:

  • Targeted gene panels (anterior segment dysgenesis)
  • Whole exome sequencing
  • Whole genome sequencing

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Management

  • Visual rehabilitation with glasses or rigid contact lenses if refractive error is present
  • Topical lubricants and/or extended wear therapeutic contact lenses are primary therapeutic options for recurrent corneal erosions; topical antibiotics can be added during acute flare-ups to prevent secondary infections
  • Surgical intervention to remove opacity–Excimer laser superficial phototherapeutic keratectomy (PTK) can be utilised for milder cases while corneal transplantations are performed for advanced cases
  • Corneal thickness must be measured prior to excimer laser PTK it may thin the cornea; number of PTK attempts are limited due to progressive corneal thinning with repeated procedures
  • Frequent recurrences within grafts; Boston keratoprosthesis can be considered in cases with repeated failed grafts[5]
  • Recurrence rate is lower with PTK and use of therapeutic soft contact lens post-operatively[6,7]

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Further information and support

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References

  1.  Kawasaki S, Kinoshita S. Clinical and basic aspects of gelatinous drop-like corneal dystrophy. Dev Ophthalmol. 2011;48:97-115. doi:10.1159/000324079
  2.  Tsujikawa M, Kurahashi H, Tanaka T, et al. Identification of the gene responsible for gelatinous drop-like corneal dystrophy. Nat Genet. Apr 1999;21(4):420-3. doi:10.1038/7759
  3.  Nakatsukasa M, Kawasaki S, Yamasaki K, et al. Tumor-associated calcium signal transducer 2 is required for the proper subcellular localization of claudin 1 and 7: implications in the pathogenesis of gelatinous drop-like corneal dystrophy. Am J Pathol. Sep 2010;177(3):1344-55. doi:10.2353/ajpath.2010.100149
  4.  Siebelmann S, Scholz P, Sonnenschein S, et al. Anterior segment optical coherence tomography for the diagnosis of corneal dystrophies according to the IC3D classification. Surv Ophthalmol. May-Jun 2018;63(3):365-380. doi:10.1016/j.survophthal.2017.08.001
  5.  Lekhanont K, Jongkhajornpong P, Chuephanich P, Inatomi T, Kinoshita S. Boston Type 1 Keratoprosthesis for Gelatinous Drop-Like Corneal Dystrophy. Optom Vis Sci. Jun 2016;93(6):640-6. doi:10.1097/opx.0000000000000835
  6.  Hieda O, Kawasaki S, Yamamura K, Nakatsukasa M, Kinoshita S, Sotozono C. Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan. Medicine. 2019;98(27):e16216-e16216. doi:10.1097/MD.0000000000016216
  7.  Oura Y, Nishida K, Maeda N, et al. Long–Term Results of Phototherapeutic Keratectomy and Extended Wear of Therapeutic Soft Contact Lenses for the Treatment of Gelatinous Drop–Like Corneal Dystrophy. Investigative Ophthalmology & Visual Science. 2005;46(13):2710-2710

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Updated on November 30, 2020
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