CASE OF THE MONTH: July 2022

A SHOX-ing Association

Ollya V. Fromal, MD; Rebecca Soares, MD, MPH; Maxwell Stem, MD; Yoshihiro Yonekawa, MD

Case:


A 20-year-old woman presented with blurred peripheral vision in the left eye for many years









Differential diagnosis:

  • Coats Disease
  • Coats-like retinopathy
    • Fascioscapulohumeral Muscular Dystrophy
  • Coats-like response
    • Retinitis Pigmentosa
  • Familial Exudative Vitreoretinopathy
  • Retinopathy of Prematurity
  • Incontinentia pigmenti
  • Eales Disease
  • Telomere Disorders

History:

Past medical history:

  • Full-term birth
  • Leri-Weill Dyschondrosteosis

Medications:

  • None

Family history:

  • Unremarkable

Social history:

  • Unremarkable

Coats Disease

  • Congenital disorder of retinal vascular development
  • Usually unilateral
  • Telangiectatic vessels, aneurysms, and progressive exudation
    • Frequent exudative retinal detachment without signs of traction
  • Presents more commonly in young males


Shields JA, Shields CL, Honavar SG, Demirci H, Cater J. Classification and management of Coats disease: the 2000 Proctor Lecture. Am J Ophthalmol. 2001 May;131(5):572-83. doi: 10.1016/s0002-9394(01)00896-0. PMID: 11336931.

Shields JA, Shields CL, Honavar SG, Demirci H. Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. Am J Ophthalmol. 2001 May;131(5):561-71. doi: 10.1016/s0002-9394(00)00883-7. PMID: 11336930.


Coats-like retinopathy

  • Often bilateral
  • Associations:
    • Fascioscapulohumeral muscular dystrophy
    • Retinitis pigmentosa
    • Turner syndrome
    • Epidermal nevus syndrome,
    • Cornelia de Lange syndrome
    • Alport syndrome
    • Familial renal-retinal dystrophy (Senor-Loken syndrome)
    • 13-q deletion syndrome
    • Post–renal transplantation
    • Inversion of chromosome 3
    • Hallermann-Streiff syndrome
    • Aplastic anemia




Shields JA, Shields CL, Honavar SG, Demirci H. Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. Am J Ophthalmol. 2001 May;131(5):561-71. doi: 10.1016/s0002-9394(00)00883-7. PMID: 11336930.

Moinuddin O, Sathrasala S, Jayasundera KT, Branham KH, Chang EY, Qian CX, Recchia FM, Fahim AT, Besirli CG. Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes. Ophthalmol Retina. 2021 Jan;5(1):86-96. doi: 10.1016/j.oret.2020.03.026. Epub 2020 Apr 9. PMID: 32507488; PMCID: PMC8086515. https://www.fshdsociety.org/


Leri-Weill Dyschondrosteosis (LWD)

  • Rare congenital skeletal dysplasia
  • Short stature, madelung wrist deformity, increased muscle mass
  • Haploinsufficiency of the SHOX gene
    • short stature homeobox
  • No known ocular associations

Mesomelia (middle limb dwarfism)


Madelung’s deformity (wrist deformity due to shortening of the radius bone)


Shears DJ, Vassal HJ, Goodman FR, et al. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 1998;19:70-3.

Chen H. (2017) Dyschondrosteosis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_72 https://www.omim.org/entry/127300


Genetic workup

  • FEVR panel was negative


Coats-like Retinopathy in Musculoskeletal Disorders

Fascioscapulohumeral Muscular Dystrophy

  • Muscle weakness
  • Inappropriate DUX4 expression

Turner Syndrome XO

  • Short stature
  • 45X karyotype
  • SHOX gene implicated

Leri-Weill Dyschondrosteosis

  • Mesomelia, Madelung wrist deformity
  • SHOX gene mutation

A New Association


Leri-Weill Dyschondrosteosis

Leri-Weill Dyschondrosteosis


Coats-like retinopathy

Coats-like retinopathy