Tag:
Retinal Dystrophies

Cone dystrophy is characterized by progressive dysfunction of cone photoreceptors, leading to visual symptoms such as photophobia, color vision loss, and central vision decline. Fundus autofluorescence (FAF) often shows a bull’s-eye pattern of hyper- and hypoautofluorescence, indicating retinal pigment epithelium (RPE) changes. Optical Coherence Tomography (OCT) reveals thinning or disruption of the ellipsoid zone (EZ), with central retinal atrophy in advanced cases. FAF and OCT are essential for diagnosis and monitoring progression.

#ConeDystrophy #FAF #OCT #EllipsoidZone #RetinaImaging #retina #oftalmo #ophthalmology #oftalmologia #oftalmología #ophtalmologie #офтальмологія #офтальмология #οφθαλμολογία #retinography2024 #CIRRUS6000 #CLARUS700 #ZEISSRETINAWORKFLOW

PRPH2-related retinal dystrophy, also known as peripherin-2 related dystrophy, can manifest with various retinal degenerative changes. Fundus autofluorescence (FAF) is a valuable tool in assessing these changes. FAF imaging often shows areas of hyperautofluorescence and hypoautofluorescence, indicating regions of retinal pigment epithelium (RPE) stress and atrophy, respectively. This helps in monitoring disease progression and evaluating the extent of retinal involvement.

#PRPH2 #RetinalDystrophy #FAF #RetinaImaging #RPEAtrophy #Hyperautofluorescence #Hypoautofluorescence #retina #oftalmo #ophthalmology #oftalmologia #oftalmología #ophtalmologie #офтальмологія #офтальмология #οφθαλμολογία #retinography2024 #CIRRUS6000 #CLARUS700 #ZEISSRETINAWORKFLOW

Best’s vitelliform dystrophy is an inherited retinal disorder caused by mutations in the BEST1 gene. This condition is characterized by the accumulation of yellowish lipofuscin material in the macula, forming a vitelliform lesion. The progression of the disease can be monitored using fundus autofluorescence (FAF) and Optical Coherence Tomography (OCT), which help visualize the structural changes in the retina. Genetic test for this case revealed BEST1 c.914T>C (p.Phe305Ser) gene

#BestsVitelliformDystrophy #BEST1Gene #VitelliformLesion #FAF #OCT #RetinaImaging #retina #oftalmo #ophthalmology #oftalmologia #oftalmología #ophtalmologie #офтальмологія #офтальмология #οφθαλμολογία #retinography2024 #CIRRUS6000 #CLARUS700 #ZEISSRETINAWORKFLOW

Best’s vitelliform dystrophy is characterized by the presence of vitelliform lesions in the macula. Fundus autofluorescence (FAF) imaging shows increased autofluorescence corresponding to the accumulation of lipofuscin within the lesion. Optical Coherence Tomography (OCT) provides cross-sectional images, revealing a hyperreflective lesion between the retinal pigment epithelium (RPE) and the photoreceptor layer, aiding in the diagnosis and monitoring of the disease.

#BestsVitelliformDystrophy #VitelliformLesion #FAF #OCT #RetinaImaging #retina #oftalmo #ophthalmology #oftalmologia #oftalmología #ophtalmologie #офтальмологія #офтальмология #οφθαλμολογία #retinography2024 #CIRRUS6000 #CLARUS700 #ZEISSRETINAWORKFLOW

Best’s vitelliform dystrophy progresses from a vitelliform lesion to a “scrambled egg” appearance. Fundus autofluorescence (FAF) highlights the changing autofluorescence patterns as the lesion evolves. Optical Coherence Tomography (OCT) shows the transition from a well-defined subretinal lesion to a more disrupted, heterogeneous structure, reflecting the breakdown of the vitelliform material and photoreceptor damage.

#BestVitelliformDystrophy #VitelliformLesion #ScrambledEggAppearance #FAF #OCT #RetinaImaging #retina #oftalmo #ophthalmology #oftalmologia #oftalmología #ophtalmologie #офтальмологія #офтальмология #οφθαλμολογία #retinography2024 #CIRRUS6000 #CLARUS700 #ZEISSRETINAWORKFLOW

Stargardt disease, associated with mutations in the ABCA4 gene, is the most common form of inherited juvenile macular degeneration. It is characterized by progressive loss of central vision, often beginning in childhood or adolescence. The disease leads to the accumulation of lipofuscin in the retinal pigment epithelium, visible as yellowish flecks on imaging studies, predominantly affecting the macula and central vision.

#retina #oftalmo #ophthalmology #oftalmologia #oftalmología #ophtalmologie #офтальмологія #офтальмология #οφθαλμολογία  #retinography2024 #CIRRUS6000 #CLARUS700 #ZEISSRETINAWORKFLOW

Fundus albipunctatus, caused by the RDH5 gene variant c.592del (p.Ile198Tyrfs*15), such as this case, is a rare form of congenital stationary night blindness characterized by white dots in the fundus, with symptoms typically improving over time. This autosomal recessive disorder impacts visual adaptation to darkness due to retinol dehydrogenase deficiency.

#retina #oftalmo #ophthalmology #oftalmologia #oftalmología #ophtalmologie #офтальмологія #офтальмология #οφθαλμολογία #retinography2024 #CLARUS700 #ZEISSRETINAWORKFLOW

Sector retinitis pigmentosa (RP) is a rare form of RP characterized by regionalized pigmentary changes in the retina. Fundus autofluorescence (FAF) is valuable for assessing the extent of retinal degeneration, showing hyperautofluorescent rings indicating areas of active disease and hypoautofluorescent zones where photoreceptors have degenerated.

Disclosure: All images featured in this post were acquired and analyzed using devices integrated within the Zeiss Retina Workflow. This ensures high-quality, detailed visual data for comprehensive assessment.

Stargardt disease, a genetic eye disorder, is characterized by central vision loss. Fundus autofluorescence (FAF) imaging is crucial for diagnosing and monitoring Stargardt disease by revealing characteristic flecks and areas of decreased autofluorescence due to lipofuscin accumulation in retinal pigment epithelial cells.

Disclosure: All images featured in this post were acquired and analyzed using devices integrated within the Zeiss Retina Workflow. This ensures high-quality, detailed visual data for comprehensive assessment.