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Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 13 of 23

Pentosan Polysulfate Sodium (PPS): FDA approved to treat interstitial cystitis (IC) – also for off label use including irritable bowel syndrome IC also called bladder pain syndrome is a chronic unexplained/non-infectious cause of inflammation and irritation and thinning of the bladder lining. Symptoms include discomfort or pain of the pelvis,

Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 13 of 232025-04-01T18:29:48+00:00

Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 11 of 23

Pigmentary Retinopathy DDx: Degenerative:Age-related macular degenerationMyopic retinopathy Toxicity:Chloroquine/HydroxychloroquinePhenothiazines – Thioridazine, chlorpromazinePentosan PolysulfateDeferoxamine ToxicityVitamin A deficiencyAbetalipoproteinemia Malignant Conditions: Melanoma-associated retinopathy – Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP) Retinal Dystrophies:Retinitis PigmentosaPattern DystrophyCone-rod dystrophyStargardt diseaseIRD in Mitochondrial disorders (Kaerns-Sayre Syndrome, Maternally inherited diabetes and deafness, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, Myoclonic epilepsy

Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 11 of 232025-04-01T18:29:18+00:00

Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 10 of 23

Nyctalopia DDx: Refractive Error – undercorrected myopiaAdvanced glaucoma or optic atrophyRetinitis pigmentosaCongenital stationary night blindnessOguchi diseaseChoroideremiaGyrate atrophyPigmentary MaculopathyDrug Induced retinopathies (phenothiazines, chloroquine, quinine, pentosan)s/p panretinal photocoagulation

Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 10 of 232025-04-01T18:29:06+00:00

Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 9 of 23

Genetic Testing: Genetic testing at whole exome sequencing (WES) at GeneDx"Testing did not identify a likely cause of disease. This is a negative result. No likely disease-causing variants were identified.“Still waiting on mitochondrial DNA testing. 

Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 9 of 232025-04-01T18:28:54+00:00

Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 8 of 23

Electroretinography:  ERG is consistent with rods dysfunction OU as seen with decreased rod-isolated b-wave amplitude in response to a scotopic dim (blue) flash and decreased b-wave (80-90% rods) response to scotopic bright (white flash). The cone response isolated with the photopic 30Hz flicker has a normal amplitude but shows mild abnormal

Case #74: Pentosan Polysulfate Maculopathy: Another Differential Diagnosis for Night Blindness – Page 8 of 232025-04-01T18:28:42+00:00