The study group consisted of 5 Retinitis Pigmentosa families with no associated systemic conditions. DNA from these families were collected and screened for mutations in the rhodopsin and peripherin RDS genes using restriction endonuclease studies Methods : Patients were taken from the Philippine General Hospital - Medical Retina Clinic and the Resources for the Blind. All were clinically diagnosed as Retinitis Pigmentosa with a strong family history of nightblindness. All underwent complete ophthalmological examination including fundus photos and ERG. 5 - 10 cc of peripheral blood were extracted and sent to Stone Molecular Biology Lab at University of Iowa Hospital and Clinics Results: 5 families had negative results for known mutations in rhodopsin and peripherin RDS genes.
Human ; Adult ; Young Adult ; Adolescent ; RETINITIS PIGMENTOSA

Purpose: To determine the histopathology of enucleated post-traumatic eyeballs and the most frequent indicators for enucleation Methods: All eyeballs enucleated with a clinical diagnosis of ocular injury were reviewed. The study period was from 1971 to 1996 Results: There were 198 eyeballs studied. Males were three times more involved than females. The most affected age group belonged to the third decade of life. Eyeball rupture with expulsive hemorrhage and loss of intraocular contents accounted for the most common indication for immediate enucleation. Endophthalmitis and panophthalmitis were the next common indications for early enucleation. The rest of the eyeballs were enucleated from 3 months to 43 years after injury. Histopathology revealed the presence of staphyloma, atropia bulbi, pthisis bulbi and glaucoma. Synechiae, cataract and keratitis were the outstanding features of the anterior segment pathology. Retinal detachment, choroidal hemorrhage and detachment were the most significant findings in the posterior segment Conclusions: The major indications from early enucleation in ocular trauma are eyeball rupture with expulsive hemorrhage and infectious processes. Staphyloma, pthisis bulbi and glaucoma may develop in later years leading to enucleation.
Human ; Aged ; Middle Aged ; Adult ; Young Adult ; Adolescent ; Child ; Child Preschool ; Infant ; EYE ENUCLEATION ; OPHTHALMOLOGIC SURGICAL PROCEDURE

Objective: This study correlated the patterns of ocular B- and A-scans of intraocular retinoblastoma (RB) with corresponding histopathology sections. It aimed to establish a more objective basis for determining intraocular retinoblastoma by ultrasonography (UTZ) and to determine the degree of malignancy and viability of the tumor cells. Methods: New cases of retinoblastoma seen at the University of the Philippines-Philippine General Hospital (UP-PGH) from January 1994 to December 2003 were reviewed. Included were patients who underwent enucleation and whose eyeballs were processed at the UP Institute of Ophthalmology. Those with good quality ocular ultrasonographs (UTZ) and clear matching histopathologic sections were finally selected. Findings were correlated and analyzed.Results: Retinoblastoma (RB) showed multiplicity of lesions on UTZ corresponding to multiple lesions on histopathology. The following characteristic patterns were seen: Very malignant RB or pseudorosettes: fine, grainy densities on B-scan with short to medium broad spikes on A-scan ("V-W" pattern). Moderate differentiation with moderate necrosis and early calcific plaques: fine, dense grainy opacities on B-scan with multiple thin, high spikes admixed with tall, broad spikes of calcium deposits on A-scan. Well-differentiated RB with compact viable cells and no necrosis: large, white densities on B-scan with an initial high spike and high internal reflectivity, sometimes "plateauing," on A-scan with no calcific deposits. Complete tumor necrosis with calcific plaques: echolucent space with dense, white, plaque-like opacities on B-scan; flat or low spikes mixed with tall, broad spikes corresponding to calcium plaques on A-scan. Normal vitreous, serous subretinal fluid, or recent hemorrhage: echolucent area on B-scan with flat or low spikes on A-scan. Conclusion: The three most frequent findings in intraocular retinoblastoma were calcific plaques with liquefaction necrosis, multiplicity of lesions, and pseudorosettes. Ocular ultrasound of retinoblastoma showed good histopathologic correlation.
Human ; RETINOBLASTOMA ; ULTRASONOGRAPHY ; RETINAL NEOPLASMS ; RETINAL DISEASES ; EYE DISEASES ; PATHOLOGY

Animal ; FOOD COLORING AGENTS/ADMINISTRATION & DOSAGE ; FOOD COLORING AGENTS/ADVERSE EFFECTS ; FOOD COLORING AGENTS/DIAGNOSTIC USE ; ANTERIOR CAPSULE OF THE LENS ; ANIMAL ; RABBITS

Background and Objective: Retinoblastoma is one of the most common intraocular cancers among children usually caused by the loss of retinoblastoma protein function. Despite being a highly heritable disease, conventional diagnostic and prognostic methods depend on clinical examination, with limited consideration of cancer genetics in the standard of care. CD133, KRT19, and MUC1 are commonly explored genes for their utility in liquid biopsies of cancer including lung adenocarcinoma. To date, there are few extensive molecular studies on retinoblastoma in Filipino patients. To this end, the study aimed to describe the copy number of CD133, KRT19, and MUC1 in retinoblastoma samples from a Filipino patient and quantitate the respective expression level of these genes. Methods: Hematoxylin & Eosin (H&E) staining was utilized to characterize the retinoblastoma tissue while fluorescence in situ hybridization (FISH) using probes specific to CD133, KRT19, and MUC1 was performed to determine the copy number of genes in retinoblastoma samples from a Filipino patient (n = 1). The gene expression of CD133, MUC1, and KRT19 was quantitated using RT-qPCR. Results: The H&E staining in the retinoblastoma tissue shows poorly differentiated cells with prominent basophilic nuclei. CD133 was approximately 1.5-fold overexpressed in the retinoblastoma tissue with respect to the normal tissue, while MUC1 and KRT19 are only slightly expressed. Multiple intense signals of each probe were localized in the same nuclear areas throughout the retinoblastoma tissue, with high background noise. Conclusion These findings suggest that CD133 is a potential biomarker for the staging and diagnosis of retinoblastoma in Filipino cancer patients. However, further optimization of the hybridization procedures is recommended.
Retinoblastoma ; Biomarkers ; In Situ Hybridization