Macular hole-associated retinal detachment in Best vitelliform dystrophy: Series of two cases and literature review.

Two eyes of 2 patients with macular hole-associated retinal detachment in clinically diagnosed vitelliruptive stage of Best vitelliform dystrophy were surgically managed by 25-gauge sutureless pars plana vitrectomy, internal limiting membrane (ILM) peeling with inverted ILM flap, and short-acting (SF6) gas tamponade. The patients were assessed with respect to best-corrected visual acuity, color fundus photographs, shortwave fundus autofluorescence, and swept source optical coherence tomography. Surgical intervention led to Type 1 closure of macular hole, resolution of retinal detachment, and improvement in vision in both patients.

Best vitelliform dystrophy (BVD) is an autosomal dominant macular dystrophy that is typically bilateral although asymmetric disease is not uncommon. Visual acuity remains largely unaffected till the end stages of disease; however, electrooculogram (EOG) changes are seen in all stages. An Arden ratio <1.5 along with clinical features is considered diagnostic of BVD. Infrequent complications such as a macular hole, may, however, add to the visual morbidity.[1] Very rarely, such cases may also present with retinal detachment due to the macular hole.[23]

We report two cases of BVD who presented with large macular holes and associated retinal detachment (MHRD) in one eye. Both patients had vitelliruptive stage of Best disease and relatively preserved visual acuity in the fellow eye. Pars plana vitrectomy (PPV), internal limiting membrane (ILM) peeling with inverted flap technique, and short-acting gas (SF6) tamponade were performed in both cases with good anatomic and surgical outcome.

Case Reports

Case 1

A 24-year-old male presented with complaints of gradual onset decrease in vision in the right eye over the past 1 year. The best-corrected visual acuity (BCVA) was 20/400 in the right eye and 20/30 in the left eye. Anterior segment examination was unremarkable in both eyes. Dilated fundus examination of the right eye showed a large full-thickness macular hole with retinal detachment at posterior pole extending till the ora serrata inferotemporally; no other retinal break could be found. Yellow deposits were seen over the retinal pigment epithelium (RPE) through the macular hole [Fig. 1a]. The left eye had macular pigmentary changes surrounded by yellow deposits in a ring-like manner [Fig. 1b].

Figure 1

Fundus image of the right eye of case 1 (a) shows a macular hole with associated retinal detachment and subretinal yellowish material at the base. Left eye (b) shows central pigmentary changes surrounded by a ring of yellowish deposits. Fundus autofluorescence of right eye (c) shows an ill-defined hyperautofluorescent ring around the macula. In the left eye, (d) the ring deposits appear hyperautofluorescent with a central clearing. Swept source optical coherence tomography of the right eye (e) reveals full-thickness macular defect along with neurosensory detachment. The left eye (f) shows a nonconforming focal choroidal excavation with a small hyperreflective mound over it

Shortwave fundus autofluorescence (FAF) of the right eye [Fig. 1c] revealed an ill-defined parafoveal hyperautofluorescent ring. The left eye FAF showed a central foveal hypoautofluorescence surrounded by a punctate hyperautofluorescent ring corresponding to the yellow deposits [Fig. 1d]. Swept source optical coherence tomography (SS-OCT) of the right eye showed a large full-thickness macular hole with surrounding neurosensory detachment (NSD) [Fig. 1e]. The left eye SS-OCT [Fig. 1f] revealed a normal foveal contour and presence of subretinal hyporeflective space with depression in the choroid, consistent with a nonconforming focal choroidal excavation (FCE) along with a hyperreflective mound over it. EOG was depressed with Arden ratio of 1.29 and 1.34 in the right and left eyes, respectively. A positive family history was not present, but examination of family members or genetic testing could not be performed. Based on the clinical findings, a diagnosis of BVD with MHRD in the right eye and a nonconforming FCE in the left eye was made.

After informed consent, the patient underwent 25-gauge PPV, Brilliant Blue G (BBG)-assisted ILM peeling with inverted ILM flap, and 20% SF6 tamponade in the right eye. Face-down positioning was advised for 1 week.

After 1 month, the retina was attached in the right eye, macular hole had closed, and central yellow deposits could be clearly seen [Fig. 2a]. FAF [Fig. 2b] now showed a well-defined ring of hyperautofluorescence with central clearing. SS-OCT [Fig. 2c] showed a Type 1 macular hole closure. The BCVA at this point had improved to 20/60 which was maintained at 12-month follow-up. Regular follow-up and Amsler grid testing for the left eye was advised.

Figure 2

Fundus picture of the right eye of case 1 (a) 1 month after surgery shows retinal attachment with closure of macular hole. Fundus autofluorescence (b) shows a central hypoautofluorescent area surrounded by a ring of hyperautofluorescence. Swept source optical coherence tomography (c) reveals Type 1 closure of macular hole

Case 2

A 35-year-old male presented with decreased vision in both eyes for the past 2 years, more in the right eye compared to the left. The BCVA on presentation was 20/1200 in the right eye and 20/60 in the left eye. Anterior segment was unremarkable, and dilated fundus examination revealed a large macular hole with yellow deposits and pigmentary changes at the base and retinal detachment in the right eye [Fig. 3a]. No peripheral retinal break was noted. The macular region of the left eye had a bright yellow deposit surrounded by pigmentary mottling [Fig. 3b]. FAF of the right eye showed hypoautofluorescence in the macular region [Fig. 3c]. The left eye, however, had a central region of hypoautofluorescence surrounded by a ring of hyperautofluorescence [Fig. 3d]. SS-OCT confirmed a macular hole with surrounding NSD in the right eye [Fig. 3e]. The left eye showed a normal foveal contour, NSD, and a hyperreflective subretinal deposit [Fig. 3f]. EOG was subnormal in both eyes (Arden ratios of 1.32 and 1.43 in the right and left eyes, respectively). A positive family history was not present; however, examination of family members and genetic testing could not be performed. Based on the clinical findings, a diagnosis of bilateral vitelliruptive stage of BVD and right eye MHRD was made.

Figure 3

Fundus picture of the right eye of case 2 (a) shows a large macular hole with yellowish deposits at the base and surrounding retinal detachment. Left eye (b) had pigmentary changes at the posterior pole and a bright yellow subretinal deposit. Fundus autofluorescence of the right eye (c) reveals generalized hypoautofluorescence at the posterior pole whereas the left eye (d) shows a ring of punctate hyperautofluorescence surrounding a central region of hypoautofluorescence. Swept source optical coherence tomography of the right eye (e) shows a full-thickness macular hole with associated retinal detachment. The left eye (f) had a hyperreflective nodule in the subretinal space surrounded by a hyporeflective region indicative of neurosensory detachment

After informed consent, surgery was performed as in case 1, and 1-week face-down position was advised. One month after surgery, BCVA in the right eye increased to 20/80, macular hole was closed, and retina was attached [Fig. 4a]. FAF showed a central hypo region [Fig. 4b] and SS-OCT showed a Type 1 macular hole closure [Fig. 4c]. Stable condition was noted at the last follow-up at 8 months.

Figure 4

Fundus picture (a) of the right eye of case 2 at 1-month follow-up shows fully closed macular hole and attached retina. Fundus autofluorescence (b) shows a generalized hypoautofluorescence. Swept source optical coherence tomography (c) shows Type 1 macular hole closure with retinal attachment

Discussion

Macular hole is a rare complication of vitelliform macular disease and has been associated with both juvenile and adult-onset disease. Contrary to previous notions suggesting rupture of vitelliform cyst,[4] recent research with OCT evaluation attributes progressive retinal atrophy as a probable cause for the development of macular hole in patients with BVD.[56] Moreover, the underlying retinal pathology leads to poor RPE function that makes treating a macular hole even more challenging. The current standard technique of PPV, ILM peeling, and gas tamponade has been described twice, previously, for the management of macular holes associated with BVD. While one case did well with primary surgery,[7] the other required resurgery with heavy silicone oil tamponade.[8]

Macular hole leading to retinal detachment is not a common entity. Poor RPE function in vitelliruptive stage of BVD, depicted by a central region of hypoautofluorescence in both our cases, further leading to the loss of retinochoroidal adhesion, could be a possible mechanism for the development of retinal detachment post macular hole in such cases.

Management of MHRD in BVD has been scarcely described. The first reported case by Schachat et al.[2] in 1985 was treated with PPV and fluid–air exchange (FAX). However, postoperative laser photocoagulation to macular hole edges was required for sustained retinal attachment. BCVA was documented as 6/60 at 3-month follow-up. Glacet-Bernard and Coscas[3] described pneumatic retinopexy in one case although postoperative laser to macular hole was later performed. Soliman[4] also described one case that was managed surgically with PPV. In this case as well, laser photocoagulation was performed to the macular hole edges, and the final BCVA was noted as 6/60.

Inverted ILM flap technique was described by Michalewska et al.[9] for large macular holes as a method of achieving Type 1 closure and preventing late hole reopenings. The ILM flap is thought to act as framework for subsequent proliferation of glial tissue that helps in hole closure. Both patients in our series were young nonmyopes with relatively preserved visual acuity in the fellow eye. Use of the inverted flap technique in our cases resulted in Type 1 macular hole closure without the need for laser photocoagulation to macular hole edges that probably resulted in better functional outcome. Moreover, use of short-term gas tamponade led to early rehabilitation and obviated a second surgery.

Conclusion

This report reiterates BVD as a cause of macular hole and retinal detachment in young nonmyopic patients. Treatment of such cases with inverted ILM flap technique was quite useful as a single surgery provided long-term anatomic and functional success.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.