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Dyskeratosis congenita (DC) presents with the classic triad of dysplastic nails, reticular pigmentation of the chest or neck, and oral leukoplakia. Clinical diagnosis is based on at least 2 of these features.
Given the myriad features present in DC, confirming the diagnosis is based on genetic testing.
Several ocular manifestations have been reported as part of this syndrome, including peripheral retinal vasculopathy, ocular surface alterations such as nasolacrimal duct obstruction, entropion, trichiasis, retinal peripheral vascular changes, and retinal neovascularization. Exudative peripheral retinopathy mimicking Coats disease and familial exudative vitreoretinopathy (FEVR) also have been reported.
We present a case of subretinal drusenoid deposits (SDDs) as a novel retinal manifestation of DC in a patient with coexisting bilateral capillary peripheral occlusion and DC confirmed by genetic testing.
A 45-year-old male was referred to us by his optometrist to evaluate pigmentary changes and peripheral hemorrhage discovered in his fundus examination. The patient had a previous liver transplant and pulmonary fibrosis history due to DC diagnosed clinically and confirmed with genetic testing. The patient had a visual acuity of 20/20 OU at presentation. On slit-lamp examination, poliosis was identified. Fundus examination OU revealed multiple hypopigmented lesions surrounding the optic disc, temporal to the posterior pole, as demonstrated in photograpgs (Fig. 1A, B) and on autofluorescence (Fig. 2A). Spectral-domain ocular coherence tomography (SD-OCT) revealed that these deposits were located above the retinal pigment epithelium in the subretinal space, corresponding with the features of SDDs (Fig. 1C–H).
Fig. 1Colour fundus photographs of right (A) and left eyes (B) with arrows showing the yellowish drusen lesions around temporal to the fovea and nasal to the posterior pole in both eyes. (C–H) Spectral-domain ocular coherence tomography (SD-OCT) revealed that these deposits were located above the retinal pigment epithelium in the subretinal space, corresponding with the features of subretinal drusenoid deposits.
Fig. 2Fundus autofluorescence (A), ultra-wide-field colour fundus photographs (B, C), and ultra-wide-field fluorescein angiography (D, E). Fundus autofluorescence OD (A) showing hypo-autofluorescent deposits around the peripapillary area and into the posterior pole. Ultra-wide-field colour fundus photographs OD and OS (B, C) showing areas of sclerotic vessels and microhemorrhage encircled in the midperiphery OD (B) and encircled areas of vascular distal end changes and a lack of complete vascularization of the far periphery OS (C). Ultra-wide-field fluorescein angiography shows areas of distal end vessel staining, areas of nonperfusion in the far periphery, microaneurysms and vascular remodelling changes in the inferotemporal periphery OS (D, E) and areas of capillary dropout and telangiectasia in the inferonasal mid-far periphery OD (F).
The patient's right eye presented with intraretinal hemorrhages in the midtemporal periphery, as shown in Figure 2B, and vascular changes were observed in both eyes, mid and far temporal periphery (Fig. 2B, C). Ultra-wide-field fluorescein angiography (UWFA) revealed areas of nonperfusion, capillary closure, and distal end vessel remodelling, as shown in Figure 2(D–F). There was no evidence of peripheral neovascularization.
DC is associated with retinal changes, with occlusive and exudative retinopathy being reported most often. This report describes a patient with bilateral peripheral retinopathy without exudation and neovascularization along with SDDs. To our understanding, this is the first time that SDDs have been documented in a patient with DC.
Our patient's lymphocyte count was less than the first centile in multiple cell lines, consistent with a telomerase disorder. In our case, DC was caused by a heterozygous variant of the TERC gene, specifically, TERC n.-58C>T, which is likely a promotor mutation and a variant in the same nucleotide. Variants in the TERC gene are associated with autosomal dominant dyskeratosis caused by a haploinsufficiency mechanism.
DC is a disorder of telomere biology, with the consistent feature being abnormally short telomeres alongside low levels of telomerase activity and reduced expression of TERC.
Peripheral vascular changes in DC are well known, and the exudative retinopathy has been described as a masquerading Coats disease.; However, the lack of telangiectasias on fluorescein angiography in conjunction with a bilateral component and systemic findings is helpful to distinguish between the 2 entities.
DC also has been described to mimic FEVR, presenting with exudative retinopathy in 2 siblings with an initial diagnosis of FEVR. The genetic analysis revealed DC.
Patients with DC will present with symmetric avascular and exudative features contrasting with the asymmetric presentations of Coats and FEVR. There have been reports of patients with DC describing peripheral vasculopathy successfully treated with argon laser photocoagulation in areas of nonperfusion and with triamcinolone for macular edema.
In our case, we did not find signs of neovascularization in the UWFA, and we did not initiate laser to the ischemic areas. However, prophylactic laser in these areas should be considered, especially if the patient has poor compliance with follow-up.
The retinal pigment epithelium (RPE) cells have a very high metabolic activity; therefore, these cells need to provide appropriate conditions for their telomeres to prevent premature aging.
. The SDDs found in this patient may be secondary to transport dysfunction caused by premature aging of RPE cells due to failure of telomere maintenance. However, this report only intends to describe the presence of SSDs in patients with DC; the underlying mechanism behind the origin of these deposits should be investigated further. Peripheral retinal vascular changes in DC are well known. Nonetheless, the possible association of DC-induced RPE cell changes should be considered when evaluating a patient with early presentation of subretinal drusenoid deposits. The systemic features of DC need to be scrutinized in a patient with early age onset of drusenoid deposits and vascular changes without a previous diagnosis or known history.
Footnotes and Disclosure
The authors have no proprietary or commercial interest in any materials discussed in this correspondence.
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