The authors report a case of autosomal dominant cystoid macular dystrophy in which optical coherence tomography outlined the pathology and assisted in determining the etiology of the patient’s macular edema.
Optical Coherence Tomography Findings in Autosomal Dominant Macular Dystrophy
From the Department of Ophthalmology and Visual Sciences (RS, GKS, AGP), Washington University School of Medicine; and the Barnes Retina Institute (GKS), St. Louis, Missouri.
Address correspondence to Gaurav K. Shah, MD, Barnes Retina Institute, 1600 South Brentwood Blvd., 8th Floor, St. Louis, MO 63144.
Accepted: June 29, 2007
Optical coherence tomography (OCT) has been proven useful as a tool in detecting various conditions, such as occult epiretinal membranes, cystoid macular edema, and hereditary conditions such as Best’s disease.1
A 55-year-old man presented with decreased vision in his right eye. His ocular history revealed similar symptoms approximately 2 years earlier. At that time, disc edema with accompanying macular edema in the absence of an optic disc pit was noted by the general ophthalmologist. The patient was treated with systemic steroids, presumably for the disc edema. Although subjectively decreased, visual acuity remained 20/20 in the right eye. The medical history was remarkable only for systemic hypertension. There was no obvious etiology to explain the macular edema, and there was no history of diabetes mellitus, hypercholesterolemia with niacin use, idiopathic orbital inflammation, uveitis, intraocular or refractive surgery, retinal vein occlusion, intraocular malignancy, or retinal degeneration.
On examination, visual acuity was 20/25 in the right eye and 20/30 in the left eye. The anterior segment was unremarkable. Fundus examination revealed cystoid spaces with a prominent neurofiber layer in both eyes (Fig. 1). The peripheral retinal examination was normal and did not show tears, breaks, or evidence of retinoschisis. Fluorescein angiography showed evidence of mild leakage (Fig. 2). OCT was performed and large cystoid spaces were seen intraretinally (Fig. 3). These spaces were elongated as opposed to the more typically rounded spaces formed by accumulated fluid that exerts an equal pressure around itself. It appeared as though these spaces were bordered directly by Mueller cells with their processes (Fig. 3, arrows).
Figure 1. Color Photographs of the (A) Right and (B) Left Eye Showing Macular Edema and Prominent Nerve Fiber Layer.
Figure 2. Fluorescein Angiogram Showing Less Leakage than Expected by Degree of Clinical Cystoid Macular Edema in the (A) Right and (B) Left Eye.
Figure 3. Optical Coherence Tomography Showing Bilateral Cylindrical Cystoid Intraretinal Spaces, in Which the Spaces Are Immediately Bordered by Mueller Cells with Their Processes (arrows).
Leaky perifoveal capillaries have been implicated in this disease. In addition, architectural changes otherwise atypical for cystoid macular edema can be identified on OCT. No other family members have been available for examination, but the patient reported a history of similar vision loss in both his mother and a sibling. The configuration on OCT closely resembles the original description of familial cystoid macular dystrophy by Deutman et al.2 and Pinckers et al.3
When the patient was seen at a follow-up examination 8 months after the initial presentation, visual acuity in the right eye was stable at 20/25 but visual acuity in the left eye had deteriorated to 20/400. Anterior segment examination was normal. Fundus examination was unchanged in the right eye. The left eye showed changes consistent with a macular hole as opposed to a pseudohole (Fig. 4).
Figure 4. Color Photographs of the (A) Right and (B) Left Eyes Showing Macular Edema, Prominent Nerve Fiber Layer, and Appearance of Macular Pseudohole Formation in the Left Eye.
Fluorescein angiography of the right eye was similar to that from the initial visit (data not shown). In the left eye, there was fluorescein pooling foveally and juxtafoveally in an area that represented a pseudo-operculum on fundus examination (Fig. 5). OCT of the right eye showed the previously seen cylindrical cystoid intraretinal spaces. In the left eye, there was the appearance of a subneurosensory retinal bulla underlying these spaces (Fig. 6).
Figure 5. Fluorescein Angiography of the Left Eye in (A) Venous Phase. (B) Late Frame Showing Foveal and Juxtafoveal Pooling of Dye with Central Hyperfluorescence.
Figure 6. Optical Coherence Tomography of the (A) Right Eye Showing Almost No Difference from Previous Testing and the (B) Left Eye Showing the Formation of Subneurosensory Retinal Bulla-Formation and Maintenance of Previous Optical Coherence Tomography Changes Above Bulla. There Is No Evidence of Macular Hole Formation.
An electroretinogram was obtained and showed normal rod-specific and scotopic maximal flash responses in each eye. Photopic single flash and 30 Hz flicker responses were also normal in amplitude and implicit time for each eye. Specifically, there were no electronegative findings on electroretinogram consistent with juvenile macular retinoschisis.
Defining the ultrastructure of retinal disease is becoming increasingly sophisticated with the advances in OCT imaging. With this case, we would like to show how OCT can help make a diagnosis of dominant cystoid macular dystrophy. We would also like to point out the use of OCT in distinguishing between Best’s disease and cystoid macular dystrophy, which both can be associated with a depressed electrooculogram5 and a normal electroretinogram and can show evidence of macular edema. To our knowledge, there is no previously published report featuring OCT findings in dominant cystoid macular dystrophy.
Familial autosomal dominant cystoid macular dystrophy (dominant cystoid macular edema) is an inherited disorder with an identified defective gene4 resulting in the phenotype. Typically, onset occurs in the first or second decade of life, with visual acuity frequently decreasing to the counting fingers level by the fourth decade. The decreasing central visual acuity is typically seen in light of a normal electroretinogram.2,3 The accumulation of fluid on fluorescein angiography may be interpreted as secondary filling of primary atrophic intraretinal spaces. That might explain the pattern of cystic change on OCT out of proportion to fluorescein angiographic leakage. OCT scans of other patients with this disorder will elucidate whether this is an imaging hallmark of the disease.
- : Rosenblatt BJ, Shah GKCystic retinal changes demonstrated by optical coherence tomography in Best disease. Retina. 2004;24:322–324. doi:10.1097/00006982-200404000-00029 [CrossRef]
- : Deutman AF, Pinckers AJ, Aan de Kerk ALDominantly inherited cystoid macular edema. Am J Ophthalmol. 1976;82:540–548.
- : Pinckers A, Deutman AF, Lion F, et al. . Dominant cystoid macular dystrophy (DCMD). Ophthalmol Paediat Genet. 1983;3:157–167. doi:10.3109/13816818309007833 [CrossRef]
- : Kremer H, Pinckers A, van den Helm B, Deutman AF, Ropers HH, Mariman ECLocalization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum Mol Genet1994;3:299–302. doi:10.1093/hmg/3.2.299 [CrossRef]
- : Pinckers A, Cuypers MH, Aandekerk ALThe EOG in Best’s disease and dominant cystoid macular dystrophy (DCMD). Ophthalmic Genet. 1996;17:103–108. doi:10.3109/13816819609057112 [CrossRef]