Pattern Dystrophy – January 2017

January 2017

Case Presentation

A 53 year old female was referred to Illinois retina Associates for abnormal fundus apearance in both eyes. She does rely on glasses for bet vision, but is happy with vision with glasses or contacts.

Further History

The patient has a history of breast cancer treated with surgical removal. She has been in remission for over 5 years. She has seasonal allergies for which she occasionally takes antihistamines.

Examination

VA: 20/20, 20/80 PH 20/25
IOP: 20,19 mmHg
Pupils were equal and reactive without APD. The anterior segments were notable only for slight cataract in both eyes.

Fundus Photo

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Figure 1
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Figure 2

FAF

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OCT

OCT 1
OCT 1
OCT 2
OCT 2

Differential

This patient has a pattern consistent with a bull’s eye maculopathy.
The differential for this consists of:

  • Chloroquine or hydroxycholoquine (plaquenil) toxicity
  • Age-related macular degeneration
  • Pattern dystrophy
  • Cone dystrophy
  • Rod and cone dystrophy
  • Startgardt’s disease
  • Neronal ceroid lipofuscinosis

In this patient with excellent vision, no history of toxic exposures this patient was diagnosed as having a pattern distrophy. She has been stable without intervention for 2 years of follow-up.

Discussion

Toxic bull’s eye retinopathy secondary to chloroquine toxicity causes the classic fundus appearance, and loss of the outer retina in the parafoveal area leading to a paracentral scotoma. Risk for chloroquine toxicity is associated with dose, with an increased risk at doses above 6.5mg/kg/day for hydroxychloroquine and 3mg/kg/day for chloroquine.The risk of toxicity is <1% after 5 years of therapy, 2% at 10 years and 20% at 20 years. Screening is recommended before starting therapy with full dilated exam and OCT. Full exam with OCT is then recommended at 5 years and each year thereafter. It is important that any toxicity be detected early because changes are not reversible. Stargardt disease is the most common retinal degeneration and has a highly variable phenotype. It is an autosomal recessive disease affecting the ATP-binding cassette associated with the ABCA4 gene. Symptoms include central vision loss, abnormal dark adaptation, abnormal color vision and non-specific visual complaints. findings include pigment mottling, atrophy fundus flecks or a bull's eye appearance. The central vision loss is often slowly progressive, but the disease course is extremely variable. Age-related macular degeneration and pattern distrophy can lead to a bull’s eye pattern through changes in RPE mottling, atrophy and drusen placement.

Neuronal ceroid lipofucinosis is also known as Batten disease and is a pediatric disease characterized by progressive vision loss, seizures, motor problems, dementia and death.

References

Ophthalmologu 2016;123:1386-1394 by the Amaerican Academy of Ophthalmology

Westerfield C, Mukai S, Stargard’ts disease and the ABCR gene. Semin Opthalmol 2008:23(1):59-65.

Bozorg S, Ramirez-Montealegre D, Chung M, Pearce D. Juvenile neuronal ceroid lipofuscinosis (JCNL) and the eye. Sury Opthalmol 2009 Jul-Aug;54(4):463-71.

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