Pattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine

Hanif, Adam M.; Yan, Jiong; Jain, Nieraj

doi:10.1097/iio.0000000000000262

Cited by 19 publications

(19 citation statements)

References 105 publications

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“…Many of the features of this condition resemble those seen in pattern dystrophies and other hereditary maculopathies. 13 A unique and clinically important imaging finding that may help differentiate this condition from hereditary maculopathies is the peripapillary AF pattern (Figure 2). In eyes with involvement of peripapillary tissue, there was often a peripapillary hypoautofluorescent halo, which is distinct from the peripapillary sparing that is often seen in conditions such as ABCA4-related retinopathies.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic Spectrum of Pentosan Polysulfate Sodium–Associated Maculopathy

et al. 2019

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IMPORTANCE A unique pigmentary maculopathy was recently described in 6 patients with long-term exposure to pentosan polysulfate sodium (PPS), a long-standing oral therapy for interstitial cystitis.OBJECTIVE To characterize the exposure characteristics and clinical manifestations of PPS-associated maculopathy. DESIGN, SETTING, AND PARTICIPANTSIn this multi-institutional case series, medical records of patients who exhibited the characteristic maculopathy in the setting of prior PPS exposure were retrospectively reviewed.

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Section: Discussionmentioning

confidence: 99%

Phenotypic Spectrum of Pentosan Polysulfate Sodium–Associated Maculopathy

et al. 2019

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“…Entities such as pachychoroidopathy could present findings simulating pattern dystrophy [ 9 ]. The older age of the patient, absence of family history, asymmetrical features [ 10 ], appearances of recurrent new deposition, typical choroidal OCT features, and central migration of the deposits as seen in our case could differentiate this from primary pattern dystrophy.…”

Section: Discussionmentioning

confidence: 70%

Progression of Subclinical Pachychoroid Neovasculopathy to an Active Neovascularization in the Presence of Acquired Vitelliform Lesions

Soman

Iqbal

Sheth

et al. 2021

Case Reports in Ophthalmological Medicine

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We describe a unique case of bilateral acquired vitelliform lesions in a 67-year-old-female with pachychoroid associated with subretinal fluid in the right eye (OD) and a nonexudative choroidal neovascular membrane (CNVM) in the left eye (OS). Multimodal imaging performed at baseline and over the ensuing two years showed an increase in the OS vitelliform lesions with a concurrent transformation of quiescent CNVM to an exudative form. Further studies are warranted to gain better insight into the etiopathogenesis of these vitelliform lesions in pachychoroid and their potential role in instigating CNVM activation.

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“…The characteristic lesion appearance of AVMD on ophthalmic exam is a yellow, elevated lesion approximately 1/3 to 1 disc diameter in size [13] with the presence of nonhomogenous hyperreflectivity that accumulates within the subretinal space, in contrast to the appearance of PED or drusen which accumulate below the level of the RPE. These lesions appear similar to the vitelliform lesions found in Best disease but unlike hereditary vitelliform diseases, acquired diseases appear in a much older demographic, typically around 70 years of life.…”

Section: Discussionmentioning

confidence: 99%

Acquired Vitelliform Macular Degeneration: Characteristics and Challenges of Managing Subretinal Fluid

Juliano

Patel

Ameri

2021

JOVR

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Purpose: To highlight diagnostic challenges in patients with acquired vitelliform macular degeneration (AVMD) with subretinal fluid (SRF) and to examine the characteristics of image findings in patients with AVMD. Methods: In this retrospective review, the electronic medical record of 22 eyes of 16 patients with AVMD was studied. The rates of SRF, drusen, pigment epithelial detachment (PED), and patient clinical information such as age, length of follow-up, and BCVA were assessed. Results: The mean age at diagnosis with AVMD was 72 years with a mean follow-up time of 29 months. Median best-corrected visual acuity (BCVA) was 20/33 at presentation and 20/33 at final follow-up. Drusen was found in 13 of 22 eyes (59.1%), PEDs in 4 of 22 eyes (18.2%), and SRF in 10 of 22 eyes (45.5%) at some point during their follow-up. Of the 10 eyes with SRF, 70% were center involving, and recurrence occurred in 40%, all in the same location as the initial presentation of SRF. Three eyes received an anti-vascular endothelial growth factor injection for SRF. In 66% of cases receiving an injection, the fluid later relapsed and remitted without further injections during the course of follow-up. Conclusion: AVMD occurs in the same demographic as age-related macular degeneration (AMD) and has many common features. SRF in AVMD tends to be center involving and recurs usually in the same location as its origin. The use of anti-VEGF injections did not seem to improve SRF in contrast to the SRF seen in wet AMD. Proper differentiation of AVMD may prevent unnecessary long-term treatment with intravitreal anti-VEGF injections.

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Pattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine

Cited by 19 publications

References 105 publications

Phenotypic Spectrum of Pentosan Polysulfate Sodium–Associated Maculopathy

Phenotypic Spectrum of Pentosan Polysulfate Sodium–Associated Maculopathy

Progression of Subclinical Pachychoroid Neovasculopathy to an Active Neovascularization in the Presence of Acquired Vitelliform Lesions

Acquired Vitelliform Macular Degeneration: Characteristics and Challenges of Managing Subretinal Fluid

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