The Expanding Clinical Spectrum of Choroidal Excavation in Macular Dystrophies

Parodi, Maurizio Battaglia; Casalino, Giuseppe; Iacono, Pierluigi; Introini, Ugo; Adamyan, Tatevik; Bandello, Francesco

doi:10.1097/iae.0000000000001805

Cited by 29 publications

(29 citation statements)

References 16 publications

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“…In contrast to the latter study, especially small focal choroidal excavation, as seen in most of our patients, was neither associated with choroidal neovascularization, pigment epithelial detachment or subretinal hyperreflective material ( Figure 4B). Focal choroidal excavation has been reported in up to 20% in BVMD occurring in the late stages [32,34,35] and appears to be a frequent feature of ARB as well. A large choroidal excavation as seen in our patient #18 has not been reported previously.…”

Section: Discussionmentioning

confidence: 99%

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene

Hufendiek

Jägle

Stöhr

et al. 2020

IJMS

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Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical coherence tomography (OCT). Molecular genetic testing of the BEST1 gene was conducted by the chain-terminating dideoxynucleotide Sanger methodology. Onset of symptoms (3 to 50 years of age) and best-corrected visual acuity (0.02–1.0) were highly variable. Ophthalmoscopic and retinal imaging defined five phenotypes. Phenotype I presented with single or confluent yellow lesions at the posterior pole and midperiphery, serous retinal detachment, and intraretinal cystoid spaces. In phenotype II fleck-like lesions were smaller and extended to the far periphery. Phenotype III showed a widespread continuous lesion with sharp peripheral demarcation. Single (phenotype IV) or multifocal (phenotype V) vitelliform macular dystrophy-like lesions were observed as well. Phenotypes varied within families and in two eyes of one patient. In addition, OCT detected hyperreflective foci (13/36 eyes) and choroidal excavation (11/36). Biallelic mutations were identified in each patient, six of which have not been reported so far [c.454C>T/p.(Pro152Ser), c.620T>A/p.(Leu207His), c.287_298del/p.(Gln96_Asn99del), c.199_200del/p.(Leu67Valfs*164), c.524del/p.(Ser175Thrfs*19), c.590_615del/p.(Leu197Profs*26)]. BEST1-associated ARB presents with a variable age of onset and clinical findings, that can be categorized in 5 clinical phenotypes. Hyperreflective foci and choroidal excavation frequently develop as secondary manifestations.

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Section: Discussionmentioning

confidence: 99%

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene

Hufendiek

Jägle

Stöhr

et al. 2020

IJMS

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“…choroidal pathologies including CSC, 51,60,61 CNV, 52,62 polypoidal choroidal vasculopathy, [63][64][65][66] choroidal osteoma, 67 multiple evanescent white dot syndrome (MEWDS), [68][69][70] multifocal choroiditis, 71 Epstein Barr virus infection, 69 and Vogt-Koyanagi-Harada disease. 72 Retinal disorders have also been associated with FCE such as age-related macular degeneration (AMD), 63,73 Stargardt Disease, 74 Best Disease, 75,76 pattern dystrophy, 74 cone dystrophy, 77 foveoschisis, 78 retinal hamartoma, 79,80 vitreomacular traction and retinal hole, 81,82 and torpedo maculopathy. 42 Speculation remains on the exact relationship of FCE to the above findings but associated weakening or mechanical changes in the RPE-Bruch's membrane complex and consequences of disrupted choroidal vasculature are thought to be predisposing factors (Figure 6).…”

Section: Focal Choroidal Excavationmentioning

confidence: 99%

“…Choroidal neovascularization in FCE has shown to be amenable to anti-VEGF treatment. 52,62,73,74 Both PCV and CSC with associated FCE have shown to respond to anti-VEGF injections and photodynamic therapy (PDT). 58,64 Restoration of vision varies depending on residual retinal damage.…”

Section: Dovepressmentioning

confidence: 99%

<p>Choroidal Cavitary Disorders</p>

Nassar¹,

Tarbett²,

Browning³

2020

OPTH

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The structure and functions of the choroid have been long acknowledged but the pathophysiology behind various anomalies has been difficult to understand until the advent of optical coherence tomography (OCT). With OCT imaging, choroidal cavitations appear as optically empty spaces between the outer retinal and choroidal layers with attenuation or loss of outer retinal layers. Choroidal cavitations are found in the posterior pole and seen in conditions such as pathologic myopia, north carolina macular dystrophy (NCMD), focal choroidal excavation (FCE), and torpedo maculopathy (TM). To date, these disorders have not been linked. A commonality they all share is malformation of the RPE-photoreceptor-choroid complex. The following report describes the differences and similarities of choroidal cavitation amongst the different retinal disorders and emphasizes the importance of multimodal imaging in the detection and management of potential complications.

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“…It is hypothesised that FCE could coexist with macular dystrophies because of focal degeneration of RPE and choroid. 4 FCE alone do not warrant treatment, still, its association with choroidal neovascularisation mandates meticulous follow-up. FCE in our case was of conforming type (figure 2C).…”

Section: Descriptionmentioning

confidence: 99%