Saleh Al-Mesfer

Correlation between surgical success rate and severity of congenital glaucoma.

Aim: To study the correlation between severity of primary congenital glaucoma (PCG) and success of three types of surgery. Methods: This was a retrospective review of all records of patients diagnosed with PCG up to age 1 year who underwent goniotomy, trabeculotomy, or combined trabeculotomy-trabeculectomy with mitomycin C as initial procedure between 1982 and 2002 at the King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. 532 paediatric glaucoma patients below age 1 year (820 eyes) with a minimum 1 year follow up were identified. The main outcome measures used for the surgeries were postoperative intraocular pressure, stability of the corneal diameter, and maintenance of corneal clarity. Surgical success was defined as a postoperative intraocular pressure of ⩽21 mm Hg without additional medical or surgical therapy, and with decreased corneal oedema, stabilised corneal diameter, and no additional optic nerve damage for at least 1 year after surgery. Complications, time of surgical failure, and follow up were recorded. Results: The eyes were grouped into mild (249), moderate (342), and severe (229) PCG, based on intraocular pressure, corneal diameter, and clarity. All three surgical procedures resulted in high success rates of 81–100% for the mild form of PCG. Eyes classified with moderate glaucoma had a 13%, 40%, and 80% success rate respectively for goniotomy, trabeculotomy, and combined trabeculotomy-trabeculectomy with mitomycin C. The success rate for severe PCG was 10% and 70% for trabeculotomy and combined surgery respectively. Goniotomy was never done for eyes with this condition. Conclusion: Clinical classification of PCG is helpful for surgical decision making. The mild form has a high surgical success regardless of the procedure chosen. Combined trabeculotomy-trabeculectomy with mitomycin C gave the best results for moderate and severe cases of PCG.

Porous polyethylene orbital implant in patients with retinoblastoma

OBJECTIVE The purpose of the study was to assess integration of porous polyethylene allografts in 37 anophthalmic sockets of retinoblastoma enucleations. DESIGN A clinical review. PARTICIPANTS Thirty-four patients (19 female, 15 male) whose age when diagnosed with retinoblastoma ranged from 1 to 72 months participated. Sixteen patients had unilateral retinoblastoma and 18 had bilateral retinoblastoma. INTERVENTION Enucleation (3 bilateral, 31 unilateral) with implantation of a porous polyethylene (PP) sphere (16-20 mm in diameter) was performed. Of the 37 spheres, 34 were primary implants and 3 were secondary implants. In the eight patients with postimplantation exposure, the PP implant had to be removed. MAIN OUTCOME MEASURES Data on eight sockets with exposed PP implant were measured. RESULTS There were no implant extrusions, but conjunctival dehiscence-exposure occurred in eight patients (21.6%). In 3 of 37 sockets, the volume replacement was not good, and in 5 cases, fornices were too shallow to accommodate a well-fitting prosthesis. In all but one socket, the overall cosmesis was graded subjectively from acceptable (grade 2) to excellent (grade 3). CONCLUSIONS Although the PP implant is a useful and a less-expensive alternative to hydroxyapatite in the porous matrix implant category, if conjunctival exposure takes place, the implant presents a serious management problem because of its nonresponsiveness to medical and surgical treatments.

Workup for Metastatic Retinoblastoma: A Review of 261 Patients

PURPOSE The means available to screen for retinoblastoma metastases, including bone marrow aspiration, lumbar puncture, and radionuclide scans, offer variable usefulness at different stages of the disease. In this study, the authors attempted to assess the value of these tests as part of the initial workup for metastases. METHODS Medical files of 261 patients with retinoblastoma were reviewed, and the results of bone marrow, lumbar puncture, and bone and liver radionuclide scans were correlated with the laterality, clinical staging, and histopathologic findings. The presence or absence of tumor in the choroid and the optic nerve also were correlated with the results of diagnostic tests. RESULTS Of 261 patients with retinoblastoma, 147 (56.3%) and 114 (43.7%) had unilateral and bilateral disease, respectively; 11.6% of unilateral cases and 14.9% of bilateral cases had distant metastasis (P = 0.2). Bone marrow aspirations were performed on 101 patients (38.7%), and 10 (9.9%), of these specimens showed the presence of retinoblastoma cells in the aspirate. Ninety-four (36%) of the patients were examined with spinal tap cytology, and the results of four (4.3%) of these were positive for tumor cells. Radionuclide bone and liver scans were performed on 49 (18.8%) and 48 (18.4%) patients, respectively; 5 (10.2%) had abnormal bone scans and 3 (6.2%) had abnormal liver scans. The average age in the metastatic group was 3.1 years, whereas the average age in the nonmetastatic group was 2.3 years. All of our abnormal test results were found in patients with stages III and IV disease, with the exception of one abnormal lumbar puncture in a patient with stage II disease. The correlation of diagnostic tests with the histopathologic findings showed that with no choroidal involvement, no positive diagnostic tests were encountered. Correlation between positive diagnostic test results and the level of optic nerve involvement failed to indicate any trends. CONCLUSION Our study indicated a good interrelation between the positivity of diagnostic tests (bone marrow and bone scan) and higher stages of the disease (stages III and IV) and choroidal involvement in enucleated eyes, with statistically significant correlations; correlations with lumbar puncture and liver scan were not significant.

Recognized globe perforation during strabismus surgery: incidence, risk factors, and sequelae.

BACKGROUND Inadvertent perforation of the globe is a well-recognized complication of extraocular muscle surgery. We evaluated the incidence, risk factors, and sequelae of this complication at our institution. METHODS Medical records of patients who underwent extraocular muscle surgery at King Khaled Eye Specialist Hospital, Saudi Arabia, between September 1983 and April 1997, were reviewed for the occurrence of globe perforation. We documented preoperative visual acuity and refraction, surgical procedure, how the perforation occurred, and immediate management, as well as the sequelae of the perforation, its management, and final outcome. RESULTS Recognized perforations occurred in 15 of 4886 procedures, for an overall incidence rate of 3/1000. Perforations were 3 times more common in myopic eyes (>-6.00 D, P =.05) and 2 times more common in eyes with previous extraocular muscle surgery. Perforations occurred during muscle reattachment (5 cases), placement of traction sutures at the limbus (4 cases with transient hyphema), muscle disinsertion (3 cases), and placement of sutures at the muscle insertion before disinsertion (3 cases). One patient had a large scleral laceration with uveal prolapse, necessitating scleral patch graft at the time of surgery, and later had retinal detachment surgery with loss of 2 lines of visual acuity. Endophthalmitis, cataract, glaucoma, and phthisis bulbi were not encountered in our review. CONCLUSION The current incidence of globe perforation is low and only rarely associated with serious sequelae.

Glaucoma in Sturge-Weber syndrome ☆

BACKGROUND In glaucoma associated with Sturge-Weber syndrome (SWS), medical treatment often fails to control intraocular pressure, thus requiring surgical intervention that may result in serious complications. METHODS Eighteen consecutive patients with SWS were reviewed retrospectively at the King Khaled Eye Specialist Hospital. An intraocular pressure less than 20 mm Hg, plus stable optic nerve cup-to-disc ratio and corneal diameter (or visual fields where appropriate), were parameters chosen to indicate that the glaucoma was being controlled. RESULTS Glaucoma was found in 15 of 18 patients (22 eyes). The mean follow-up time was 62 months (range, 12 to 148 months). Medical treatment alone was successful in 5 patients (7 eyes); the remainder required surgical intervention. The initial surgical procedures included cyclocryotherapy, YAG laser goniotomy, surgical goniotomy, and trabeculotomy or trabeculectomy. Eight eyes required subsequent surgery, 5 with Molteno or Ahmed implants. Early postoperative choroidal effusion and hemorrhage occurred in 4 eyes and resolved spontaneously. Hemorrhagic choroidal detachment with total retinal detachment developed in 2 patients 3 to 5 months after surgery. In 1 patient a recurrent serous choroidal detachment after suture lysis was associated with total optic atrophy. CONCLUSIONS Glaucoma in SWS is common. Control of glaucoma was successfully achieved with medical treatment in 7 of 22 eyes of our 15 SWS-glaucoma patients, and we consider it the initial treatment of choice. Of the 15 eyes that required surgery, late postoperative complications resulted in loss of vision as a result of persistent postoperative hypotony in 3 eyes that underwent surgical procedures.

Secondary posterior chamber intraocular lens implantation in children

BACKGROUND Primary intraocular lens (IOL) implantation after cataract aspiration is a widely accepted means of correcting pediatric aphakia. However, little is available in the literature on secondary IOL implantation in children. We present our experience over the past 6 years. METHODS The charts of 57 aphakic children (61 eyes) who underwent secondary posterior chamber IOL implantation between January 1989 and April 1996 were reviewed. In general, these children were either intolerant of or noncompliant with their contact lenses. An attempt was made to correlate visual outcome with patient variables. Evaluation of the ciliary sulcus structure was made in selected patients by ultrasonographic biomicroscopy to reveal any changes resulting from the presence of the IOL haptic in the sulcus. RESULTS The age range at the time of surgery was 2 to 16 years (mean 8 y). Mean follow-up was 14 months (range 6 to 48 months). Forty-two percent of the patients had a best-corrected visual acuity of 20/40 or better and 78% saw better than 20/80. Posterior capsular opacification occurred in 10 eyes, 8 of which required neodymium:yttrium-aluminum-garnet laser capsulotomy. No major complications occurred. Ciliary sulcus evaluation by biomicroscopy did not reveal any significant ciliary body or scleral erosion. No changes were noted when the implanted sulcus was compared with the normal contralateral side. CONCLUSION Although follow-up was short, this review suggests that secondary posterior chamber IOL implantation is a safe alternative when other methods of correcting pediatric aphakia fail.

Retinoblastoma associated orbital cellulitis

AIM Preseptal and orbital cellulitis are rare presenting features of intraocular retinoblastoma. The objectives of this study were to determine the frequency of retinoblastoma associated cellulitis, as well as to review its clinical and histopathological features. METHODS The medical records of 292 retinoblastoma patients in the King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia were reviewed. Those indicating a history of, or presenting with, cellulitis were retrieved and their clinical, radiological, and histopathological variables were assessed. Patients with definite extraocular tumour extension on clinical or radiological examination were excluded. RESULTS 14 patients were found to have retinoblastoma associated cellulitis (4.8%); nine had bilateral and five had unilateral retinoblastoma. Conjunctival and blood cultures were performed in 10 cases and were negative. 10 children were treated with intravenous steroids, often in conjunction with antibiotics, resulting in a prompt decrease in inflammation. Three other children were treated with antibiotics alone and one received no treatment. Computed tomographic scanning depicted large intraocular tumours occupying between 80% and 100% of the globe in each case. In eight patients, periocular inflammation was radiologically interpreted as possible extraocular extension. In one patient serial computed tomographic scanning showed a reduction in intraocular calcification over time which occurred in the presence of cellulitis. 12 patients underwent enucleation and histopathological examination revealed large necrotic, poorly differentiated tumours associated with uveal involvement and early optic nerve invasion. Focal perilimbal destruction was seen in one patient, and in another peripapillary extrascleral extension was present. 12 patients are alive with a mean follow up of 56.4 months. CONCLUSIONS Radiological evaluation of scleral integrity may be hindered by periocular inflammatory changes. The orbital cellulitis correlated well with the presence of advanced intraocular retinoblastoma with massive necrosis and anterior chamber involvement. In the majority of patients, cellulitis was not indicative of an extension of retinoblastoma into the orbit. Intravenous steroid treatment reduced orbital inflammation, facilitating examination and subsequent enucleation.

Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay

Background Leber congenital amaurosis (LCA) is a severe infantile retinal dystrophy that is non-syndromic other than neurodevelopmental delay, reported in up to 20% of cases according to one older study. The phenotype is typically autosomal recessive and is genetically heterogeneous. Although LCA is defined by a non-recordable electroretinogram (ERG) during infancy, many LCA studies include infants with low ERG readings and/or older children not phenotyped during infancy. More recent series of genetically confirmed LCA do not document the recurrent neurodevelopmental delay of older studies. We investigate the possibility that neurodevelopmental delay is not actually a recurrent feature of strictly defined otherwise non-syndromic LCA. Methods Retrospective consecutive case series (2012–2014) of children with strictly defined LCA, all of whom underwent targeted next-generation sequencing with a panel of 14 LCA genes. Results All families were endogamous and/or consanguineous. 18/19 (22/23 children) had detectable causative recessive mutations, and these were in one of three genes only: 11 in RPGRIP1, 5 in GUCY2D and 2 in RPE65. 9/11 children with RPGRIP1 mutations harboured homozygous c.1007delA (p.Glu370Asnfs*5) mutation. 5/23 children (22%) had concomitant neurodevelopmental delay, and these five children harboured recessive mutations in RPGRIP1 (2) or GUCY2D (3). Haplotype analysis for cases with the RPGRIP1 deletion suggested a single ancestral mutation. Conclusions Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations. Strictly defining LCA can limit genetic heterogeneity. On the Arabian Peninsula, the phenotype is frequently from recessive RPGRIP1 mutations, most of which are a founder RPGRIP1 deletion.

Pediatric IOL implantation : The KKESH experience

BACKGROUND Intraocular lens (IOL) implantation is increasingly accepted as a means of correcting pediatric aphakia. However, few large series have been reported. We present our experience over the past 6 years. METHODS Charts were reviewed of 84 patients (88 eyes) 8 years old or younger who underwent IOL implantation at King Khaled Eye Specialist Hospital between January 1989 and March 1995. An attempt was made to correlate visual outcome with patient variables, and refractive outcome was assessed. RESULTS Despite a high percentage of patients with penetrating trauma (24%) and a significant level of poor compliance with amblyopia treatment (33%), one third of patients saw 20/40 or better, and 60% had at least 20/80 acuity. Improved visual outcome correlated with later onset and shorter duration of opacity and compliance with occlusion therapy. The posterior capsule was left intact in the majority of cases; opacification occurred in 47 eyes, 25 of which required Nd:YAG capsulotomy. No unexpected complications occurred. Prediction of postoperative pseudophakic refraction was within 2 diopters (D) in 70% of patients. CONCLUSION IOL implantation in appropriate children can be used as a safe alternative to other methods of correcting pediatric aphakia. Visual outcome often depends on amblyopia management. These patients are appropriately followed by ophthalmologists who are experienced in managing amblyopia and pediatric pseudophakia.

Presentation of retinoblastoma as phthisis bulbi

Purpose: We sought to determine the incidence of retinoblastoma patients who presented with phthisis bulbi.Methods: The medical records of 272 patients in the King Khaled Eye Specialist Hospital Retinoblastoma Registry were retrospectively studied. Clinical records, radiological investigations and histopathological slides were reviewed.Results: We found that 2.7% of patients had retinoblastoma coincident with phthisis bulbi. Five of 10 patients had bilateral retinoblastoma; in the others it was unilateral. Radiologically, intraocular calcification was present in all except one case. All enucleated phthisical globes had residual viable tumour cells; optic nerve extension was found in 2 patients who had longstanding phthisis bulbi.Conclusion: Phthisis bulbi is an uncommon presenting sign of retinoblastoma which often occurs after an ocular inflammatory episode possibly related to intraocular tumour infarction. In most cases the tumour is not visible because of intraocular disruption. That every enucleated eye in this series harboured well-differen-tiated tumour cells underlies the seriousness with which phthisis bulbi of unknown origin in children should be investigated for retinoblastoma.