CASE OF THE MONTH: July 2022
A SHOX-ing Association
Case:
A 20-year-old woman presented with blurred peripheral vision in the left eye for many years
![](https://vba.vitbucklesociety.org/images/cotm/7-22/COTM1.png)
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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
![](https://vba.vitbucklesociety.org/images/cotm/7-22/COTM6.png)
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
![](https://vba.vitbucklesociety.org/images/cotm/7-22/COTM7.png)
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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
![](https://vba.vitbucklesociety.org/images/cotm/7-22/COTM10.png)
Mesomelia (middle limb dwarfism)
![](https://vba.vitbucklesociety.org/images/cotm/7-22/COTM11.png)
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
![](https://vba.vitbucklesociety.org/images/cotm/7-22/COTM12.png)
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