Quantifying cardiac dysfunction and valvular heart disease associated with subretinal drusenoid deposits in age-related macular degeneration.

BACKGROUND/AIMS: Demonstrate through objective multidisciplinary imaging that subretinal drusenoid deposits (SDDs) in age-related macular degeneration (AMD) are linked to both coexistent valvular heart disease (VHD) and reduced systemic perfusion via cardiac index (CI). METHODS: Post-hoc analysis of cross-sectional study. 200 intermediate AMD (iAMD) subjects were assigned by masked readers to two groups: SDD (with or without drusen) and drusen (only) based on multimodal ophthalmic imaging. 65 transthoracic echocardiograms (TTEs) reports were available for cardiologist evaluation of VHD severity of the four cardiac valves and the presences of precursor lesions of aortic sclerosis (ASc) and mitral annular calcification (MAC). Necessary parameters to calculate CI were also obtained. Univariate testing was performed using Fisher's Exact test and t-test. RESULTS: 82.6% (19/23) of the iAMD subjects with at least one moderate/severe VHD had concurrent SDDs (p = 0.0040). All cases of aortic regurgitation (6/6, p = 0.0370) and mitral regurgitation (13/13, p = 0.0004) were found with coexisting SDDs. Stenotic VHD was not significantly associated with SDDs, however 70.7% of subjects with ASc (29/41, p = 0.0108) and 76.0% of subjects with MAC (19/25, 0.0377) had coexisting SDDs. CI was available in 48 subjects and was significantly below normal levels in the SDD cohort (mean CI SDD 1.95 ± 0.60 L/min/m2, non-SDD 2.71 ± 0.73 L/min/m2, p = 0.0004). CONCLUSIONS: Several specific VHDs have been found associated with the SDD form of AMD. Decreased systemic perfusion as measured by CI was also associated with SDDs, which supports a perfusion hypothesis of SDD pathogenesis. Further research is warranted to understand the relationship between cardiovascular disease and SDDs.

Internal Carotid Artery Stenosis and Ipsilateral Subretinal Drusenoid Deposits.

Purpose: Subretinal drusenoid deposits (SDDs) in age-related macular degeneration (AMD) are strongly associated with vasculopathies such as myocardial infarction and ischemic stroke. This study evaluates ischemic stroke subjects for SDDs to determine whether ocular hypoperfusion from internal carotid artery (ICA) stenosis is associated with ipsilateral SDDs. Methods: A cross-sectional study at Mount Sinai Hospital recruited 39 subjects with ischemic stroke (aged 52-90; 18 women, 21 men); 28 completed all study procedures. Computed tomography (CT) of the head and neck evaluated 54/56 ICAs for stenosis criteria: none (n = 33), mild (n = 12), moderate (n = 3), severe (n = 3), and complete (n = 3). Spectral-domain optical coherence tomography (SD-OCT) scans were read to consensus by two masked graders for soft drusen, SDDs and choroidal thickness (CTh; choroidal thinning = CTh < 250 µm). Univariate testing was done with Fisher's exact test. Multivariate logistic regression models tested age, gender, and ICA stenosis as covariates. Results: Moderate or more ICA stenosis (≥50%-69%) was significantly associated with ipsilateral choroidal thinning (P = 0.021) and ipsilateral SDDs (P = 0.005); the latter were present distal to six of nine stenosed ICAs versus five of 33 normal ICAs. Mild ICA stenosis (≥1%-49%) was not significantly associated with ipsilateral SDDs. Multivariate regression found that older age (P = 0.015) and moderate or more ICA stenosis (P = 0.011) remained significant independent risks for ipsilateral SDDs. Conclusions: At least moderate ICA stenosis (≥50%-69%) is strongly associated with ipsilateral SDDs and choroidal thinning, supporting downstream ophthalmic artery and choroidal hypoperfusion from ICA stenosis as the mechanism for SDD formation. SDDs may thus serve as sensitive biomarkers for ischemic stroke and other vascular diseases.

Unilateral acute posterior multifocal placoid pigment epitheliopathy (APMPPE) with delayed contralateral eye involvement.

BACKGROUND: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is a rare presumed inflammatory chorioretinopathy characterized by creamy, yellow-white placoid lesions at the level of the retinal pigment epithelium (RPE). Unilateral cases often have fellow eye involvement within days to a few weeks. This report details a rare case of delayed contralateral APMPPE, in which unilateral lesion resolution was followed by contralateral eye involvement 31 months later. CASE PRESENTATION: A 38-year-old woman presented with three days of blurry vision and photopsias in the right eye (OD). She endorsed a viral GI illness one month prior. Visual acuity was 20/25 -2 OD and 20/20 -1 in the left eye (OS). Examination revealed creamy, yellow-white placoid lesions in the posterior pole. Fluorescein angiography (FA) was notable for early hypofluorescence and late hyperfluorescence of the lesions, consistent with APMPPE. MRI and MRA brain were negative for cerebral vasculitis. She was treated with oral prednisone with complete resolution of her symptoms, vision, and lesion regression. She then presented 31 months later, with blurry vision OS and similar new creamy, yellow-white placoid lesions in the posterior pole OS. She endorsed receiving an influenza vaccine one month prior. FA again was notable for early hypofluorescence. She was diagnosed with APMPPE, this time involving the left eye, and was once again started on oral steroids with complete resolution. She denied any neurologic symptoms. CONCLUSIONS: APMPPE is an inflammatory vasculitis of the choroid, leading to hypoperfusion and ischemic injury of the RPE with subsequent lesion formation. APMPPE may be preceded by a viral prodrome or vaccination, both of which were seen in this case. Choroidal inflammation seen in APMPPE is therefore thought to stem from immune-mediated processes. Unilateral cases often have fellow eye involvement within days to a few weeks. Single eye involvement with delayed contralateral presentation, as seen in our patient, is rare. This case demonstrates that lesion resolution in one eye can be followed by contralateral eye involvement up to 31 months later, highlighting the importance of routine ophthalmic monitoring for patients with unilateral APMPPE.

Subretinal drusenoid deposits, age-related macular degeneration, and cardiovascular disease.

Decades of studies on age-related macular degeneration (AMD), cardiovascular disease and stroke have not found consistent associations between AMD and systemic vascular disease. This study suggests that there is in fact no general relationship, but instead a strong, specific association between only the subretinal drusenoid deposit (SDD) phenotype of AMD on retinal imaging and certain co-existent vascular diseases that are high risk for compromised cardiac output or internal carotid artery stenosis. Future screening initiatives for these high -risk vascular diseases (HRVDs) with fast, inexpensive retinal imaging could make a significant contribution to public health and save lives. Likewise, screening patients with known HRVDs for unrecognized AMD of the SDD form could enable needed treatment and save vision.

Leukemic Retinopathy: A Diagnostic Clue for Initial Detection and Prognosis of Leukemia.

Leukemia is a systemic malignancy that can compromise various physiological functions, including vision. We report a case of a 37-year-old male presenting with worsening bilateral central vision loss, fatigue, shortness of breath, and ankle edema. Ophthalmic examination revealed extensive retinal hemorrhages, Roth spots, and subhyaloid hemorrhages, consistent with leukemic retinopathy. Further hematologic workup confirmed chronic eosinophilic leukemia. The patient showed systemic and visual improvement after prompt treatment with imatinib. This case highlights the importance of ophthalmological assessment in diagnosing leukemia, as ocular manifestations may often be the first sign of hematological disease.