SAT-797 "Exploring Therapeutic Strategies in Pseudoglioma Osteoporosis: Insights from a Case Report"

Abstract Disclosure: C. Del Muro Baeza: None. E.F. Hammeken Larrondo: None. A.M. Agurcia: None. Pseudoglioma osteoporosis is a rare autosomal recessive genetic disorder with a prevalence of 1/2,000,000, characterized by severe osteoporosis and early-onset blindness. Loss-of-function mutations in the gene encoding the LRP5 have been identified as the genetic defect underlying this disease. Mutations in this gene can lead to a form of osteoporosis characterized by low bone density.We present the case of a 19-year-old male patient referred by the ophthalmology department. His condition began two years prior, presenting with recurrent visual disturbances, pain and burning. He was diagnosed with familial exudative vitreoretinopathy. Further evaluation for conditions associated with this ophthalmological diagnosis was initiated. Genetic testing revealed an LRP5 mutation, leading to his referral to our service. The patient was seen for the first time in the endocrinology outpatient clinic. He denied any significant family history and personal medical history, including fractures, chronic diseases, or medication use. Genetic testing confirmed the C.2696 G>A heterozygous mutation in LRP5 gene and a bone densitometry of the spine and hip that showed the next results about Z score L1 -4.3, L2 -4.4, L3 -4.1, L4 -4.8, L1-L4 -4.4. Neck -1,3, total -1.8. Laboratory studies to rule out secondary causes of osteoporosis were asked. Glucose 77 mg/dl (74-106 mg/dl), Urea 25.6 mg/dl (17-43 mg/dl), Creatinine 0.89 mg/dl (0.84-1.25 mg/dl), Colestherol 187 mg/dl (0-200 mg/dl), Triglicerides 66 mg/dl (<150 mg/dl), LDL117 mg/dl (100-129 mg/dl), Albumine 4.6 g/dl (3.5-5.2 g/dl) P 3 mg/dl (2.5-4.5 mg/dl), Mg 2.1 mg/dl (1.8-2.6 mg/dl), Na 139 mEq/l (136-145 mEq/l), K 4 mEq/l (3.5-5.1 mEq/l), Ca 10.5 mg/dl (8.8-10.6 mg/dl), Ca in 24 hrs urine 102 mg in 24 hrs (100-300 mg in 24 hrs), TSH 3.66 mUI/ml (0.4-5.3 mUI/ml), fT4 1.17 ng/dl (0.58-1.64 ng/dl), FSH 2.7 mUI/ml (1.29-19.2 mUI/ml), LH 2.6 mUI/ml (1.24-8.6 mUI/ml), Cortisol 15.7 ug/dl (6.7-22.6 ug/dl), Testosterone 4.34 ng/ml (1.75-7.81 ng/ml) GH 0.153 ng/ml (0-0.97 ng/ml), PTH 41.3 pg/ml (12-88 pg/ml).There are many research opportunities regarding this condition, particularly in examining phenotypic variability among patients with the same genetic mutation. This case report highlights the importance of a standardized step-by-step diagnostic protocol for early identification of the syndrome, integrating genetic tools, advanced bone densitometry, and future consideration of specific biomarkers for diagnostic accuracy. Treatment for patients with pathogenic variants in LRP5 is not well known. This presents an opportunity to explore precision medicine approaches to optimize long-term outcomes, which will be evaluated throughout the follow-up with our patient. ConclusionMutations in the LRP5 gene play a crucial role in osteoporosis. Areas requiring further research include standardizing diagnostic methods and optimizing treatments Presentation: Saturday, July 12, 2025