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PHOTO ESSAY
Year : 2016  |  Volume : 28  |  Issue : 1  |  Page : 71-75

Sorsby macular dystrophy


Department of Ophthalmology, Amrita Institute of Medical Sciences, Kochi, Kerala, India

Date of Web Publication11-Nov-2016

Correspondence Address:
Gopal S Pillai
Department of Ophthalmology, Amrita Institute of Medical Sciences, Kochi - 682 026, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0976-6677.193877

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How to cite this article:
Pillai GS, Ravi A. Sorsby macular dystrophy. Kerala J Ophthalmol 2016;28:71-5

How to cite this URL:
Pillai GS, Ravi A. Sorsby macular dystrophy. Kerala J Ophthalmol [serial online] 2016 [cited 2019 Jun 25];28:71-5. Available from: http://www.kjophthal.com/text.asp?2016/28/1/71/193877



A 52-year-old female patient with a history of blurring of vision in the right eye since 6 months. Best corrected visual acuity was 6/12b in the right eye and 6/6 in the left eye. She underwent three intravitreal injections in the right eye elsewhere for a diagnosis of choroidal neovascular membranes (CNVM). Intraocular pressures were normal. Her daughter also had similar complaints while here son was unaffected.

Fundus picture [Figure 1] and [Figure 2]
Figure 1: Left eye

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Figure 2: Right eye

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Left eye showed a scar with pigmentation approximately 1 DD in size inferotemporal to the fovea with macular area showing shiney retinal pigment epithelium (RPE) atrophy with surrounding RPE laterations. Right eye showed similar central circular area of shiney RPE with atrophy, and immediately inferior to it, there was an area of scarring with subretinal precipitates 1 DD in size.

Autofluorescence (AF) [Figure 3] and [Figure 4]
Figure 3: Left eye AF

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Figure 4: Right eye AF

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Hypoautofluorescence at the centre and stippled hyperautofluorecence in the periphery of the lesion in both the eyes.

Optical coherence tomography [Figure 5] and [Figure 6]
Figure 5: Left eye OCT

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Figure 6: Right eye OCT

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Left eye showed submacular detachment such as picture with RPE atrophy seen at the base. Right eye shows minimal fluid with both eyes showing small excresences from the roof of the Sorsby macular dystrophy (SMD).

Fundus fluorescein angiography [Figure 7],[Figure 8],[Figure 9],[Figure 10]
Figure 7: Left eye FFA

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Figure 8: Left eye FFA

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Figure 9: Right eye FFA

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Figure 10: Right eye FFA

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Fundus fluroscein angiography (FFA) shows block in fluoresence in the area of pigment, window defects, and statining, but not leakage at the macula in both the eyes, in the area of involvenent.

Electroretinogram [Figure 11]
Figure 11: Electroretinogram

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Full-field electroretinogram (ERG) was normal, showing that the rest of retina was normal. Her Daughter also had decrease of vision in her right eye. Visual acuity was Snellens 6/24 in the right eye and 6/6 in the left eye.

Fundus Picture [Figure 12] and [Figure 13]
Figure 12: Right eye

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Figure 13: Left eye

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Central macular pigmented area of one-half DD surrounded with area of RPE alterations both eyes about 1 DD in size.

Autofluorescence [Figure 14] and [Figure 15]
Figure 14: Right eye Autofluorescence fundus image of daughter

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Figure 15: Left eye Autofluorescence fundus image of daughter

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Central hypoautofluorescence corresponding to the pigmentation and surrounding area of hyperautofluoresence more distinctly seen in the left eye.

Optical coherence tomography [Figure 16] and [Figure 17]
Figure 16: Right eye oct daughter

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Figure 17: Left eye oct daughter

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Submacular detachment-like picture with excresences from the roof and floor of the SMD are lesser in size than her mother.

Electroretinogram [Figure 18]
Figure 18: Electroretinogram daughter

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Full-field ERG is normal showing that peripheral retina is normal both eyes.

Diagnosis – Sorby macular dystrophy.

Sorsby macular dystrophy is a highly penetrant autosomal dominant condition caused by a mutation in the TIMP3 gene. Patients with this condition typically maintain normal acuity and tritan color vision defect, drusen-like subretinal deposits, and pigment epithelial atrophy until their 40s and 50s followed by choroidal neovascularization, hemorrhage, subretinal fibrosis, and choroidal atrophy later in life. The macular lesions later have a “pseudo-inflammatory” appearance with geographic atrophy and dense clumps of black pigmentation, as seen in these pictures Prognosis is guarded as macula is involved. Later in life peripheral retina may be involved. Many patients may benefit with intravitreal injections when they develop CNVM.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12], [Figure 13], [Figure 14], [Figure 15], [Figure 16], [Figure 17], [Figure 18]



 

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