Characteristics and Success Rates of Same Day or Asynchronous Bilateral External Dacryocystorhinostomy.

PURPOSE: To evaluate the characteristics of bilateral nasolacrimal duct obstruction (NLDO) carriers and success rates of same day (simultaneous) or asynchronous (different day) bilateral dacryocystorhinostomy (DCR). METHODS: This retrospective study included patients with bilateral NLDO who underwent bilateral external DCR between January 2010 to August 2015 at the King Khaled Eye Specialist Hospital, Saudi Arabia. Postoperative success rate was considered as subjective perception of no tearing bilaterally or failure if unilateral or bilateral tearing persists after surgery. Data were statistically analyzed with P <0.05 indicating significance. RESULTS: Of 57 patients undergoing bilateral DCR, 32 (56%) had same-day surgeries and 25 underwent asynchronous surgery. The median duration of follow up was 7 months. The success rates were similar for the same day group [61.3%-95% CI 49.4-73.2)] and for the asynchronous group [54.2% (95% CI 40.4-68.0)]. Success rate was not correlated to the age, gender, or use of stents. CONCLUSIONS: The authors strongly recommend bilateral same-day external DCR to treat bilateral NLDO since the success rate of the procedure is similar to the asynchronous surgery, allowing a full treatment in just 1 operative visit.

A new surgical technique for congenital distichiasis.

PURPOSE: To describe a new technique to treat congenital distichiasis. METHODS: Case series of three distichiatic patients undergoing a novel surgical technique combining splitting of the lid margin with the distichiatic lashes, marginal tarsectomy in the affected area, and tarsoconjunctival graft obtained from the upper region of the tarsus. The graft was sutured at the exposed region of the marginal tarsectomy. RESULTS: Good cosmesis was obtained in all cases and the lids margins healed completely with good surgical outcome and no lashes contacted the cornea postoperatively. CONCLUSIONS: The split lamellae with a composite tarsoconjunctival graft results in satisfactory functional and cosmetic outcomes. The upper tarsal region represents an ideal donor site.

Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.

Intermittent Ocular Microflutter in a Patient with Acute-Onset Oscillopsia.

Saccadic intrusions are small involuntary saccadic movements that disrupt visual fixation. Among saccadic intrusions without intersaccadic intervals, ocular flutter and opsoclonus are prominent. The saccade amplitude can occasionally be very small, which is referred to as ocular microflutter. The authors present a patient with acute-onset oscillopsia following a non-specific viral condition. An ocular microflutter was subsequently detected using video-oculography. After extensive investigation, a diagnosis of isolated idiopathic or post-viral ocular microflutter was made. The evolution of the condition was favourable, and the progressive improvement of oscillopsia occurred during the following months; however, complete resolution was not achieved. Ocular microflutter is a saccadic intrusion that is rarely described in the literature and is likely go clinically unnoticed because of its small amplitude and the rare use of video-oculography in daily practice. In patients in whom this condition is suspected, the use of video-oculography is essential for a correct diagnosis.

Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome.

Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic variant of the PAX2 gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for PAX2. Patients 1 and 2 presented with the classic signs of PAPRS: renal disease associated with a congenitally abnormal optic disc, whereas patients 3 and 4 only presented with a congenital optic nerve abnormality and no renal involvement. In patients 1 and 2, the optic nerves were affected by the presence of a central excavation within the optic disc, absence of the central retinal artery, as well as multiple cilioretinal arteries radiating from the periphery of the optic disc. Bilateral optic nerve pits were seen in patient 3, and lastly, in patient 4 there was the presence of superficial gliotic tissue on the left optic disc. All patients presented with a missense mutation in the PAX2 gene, where in patient 4 possibly being only a non-pathogenic variant of the gene. In conclusion, the authors present two patients with classic clinical signs of PAPRS, having two new PAX2 mutations, which until now have not been described in the current literature; another patient with a new PAX2 mutation showing only ocular manifestations of the disease, and lastly, a patient who is a carrier of a variant of the PAX2 gene has a congenitally abnormal optic disc, which is probably not related to PAPRS.

Prevalence of Diabetic Retinopathy in a Population of Diabetics From the Middle East With Microvascular Ocular Motor Palsies.

BACKGROUND: Vascular risk factors are increasing rapidly in the Middle East. Growing inactivity and obesity have contributed to an epidemic of Type 2 diabetes mellitus (DM) in the Arab population. Microvascular palsies of the third, fourth, and sixth cranial nerves, which occur in an isolated manner, are relatively common in patients with DM, hypertension, or other vascular risk factors. METHODS: In this retrospective analysis, patients with diabetes with microvascular palsies were assessed for the prevalence of diabetic retinopathy (DR). We compared these data with the prevalence of DR in the general population of diabetics in Saudi Arabia and to a similar published study done in an American population. RESULTS: In total, 126 patients with diabetes were included in the study. The sixth nerve was most frequently involved in 67 patients (53%). Seventy-seven patients (61%) had DR, compared with 49 (39%) without DR. The prevalence of DR in the general population of Saudi patients with diabetes ranged from 30% to 36.1%. CONCLUSIONS: Our study demonstrated a higher prevalence of DR in patients with microvascular palsies compared with the general population of patients with diabetes in the Arab population. This is in contrast to a previous study in an American population. Our results might be secondary to differences between the 2 populations, in particular, the continued increase in the prevalence of vascular risk factors (mainly diabetes) and poor control of these risk factors in the Middle East.

First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations.

BACKGROUND: Fifty to 60% of patients with dominant optic atrophy (DOA) have mutations of the OPA1 gene, which encodes dynamin-related GTPase, a protein of the internal mitochondrial membrane. To date, more than 200 OPA1 mutations in the OPA1 gene have been described. However, DOA is genetically heterogeneous with certain families linked to other chromosomal loci, that is, OPA3, OPA4, OPA5, and OPA7. METHODS: This study describes a clinical series of 40 patients from Saudi Arabia with a positive DOA phenotype (i.e., decreased visual acuity during the first 2 decades of life, temporal or global optic disc pallor, and absence of other neurological or ophthalmological diseases that could explain the optic neuropathy) who underwent molecular genetic testing for OPA1 (and, in some cases, for OPA3). RESULTS: This study describes for the first time 4 OPA1 mutations in DOA patients from Saudi Arabia, including 2 novel OPA1 mutations in 2 different patients. CONCLUSION: The question remains whether certain patients in Saudi Arabia with a clearly defined DOA phenotype may be due to mutations in chromosomal loci other than OPA1 and OPA3. It is likely that genetic alterations associated with different loci will be discovered in the future.

Patulous Subarachnoid Space of the Optic Nerve Associated with X-Linked Hypophosphatemic Rickets.

Although the deficiency forms are the most common manifestations of rickets, there are other forms of rickets that are resistant to vitamin D. Of these, the most common is X-linked hypophosphatemic rickets. Rickets represents a group of multiple cranial bone disorders-craniosynostosis and the presence of Chari I malformation being the most notable-that explain the increase in intracranial pressure. We present a 4-year-old patient with an unusual association of X-linked hypophosphataemic rickets, bilateral proptosis, and prominent bilateral widening of the optic nerve sheaths. Although the association between intracranial hypertension and rickets is known, to the best of our knowledge, such a prominent distention of the subarachnoid space of the optic nerve without papilloedema has not been previously described.

A new gene mutation in a family with idiopathic infantile nystagmus.

Idiopathic infantile nystagmus (IIN) is an inherited disease, which can occur through a number of different inheritance patterns (autosomal dominant, recessive, or X-linked). The most common of these is X-linked inheritance with incomplete penetrance and variable expressivity, and can also be dominant or recessive. To date, only two mutations have been described: the first, affecting the FPR143 gene, which is associated with ocular albinism type I, and located on chromosome Xp22, and the second, affecting the FRMD7 gene located on chromosome X26-q27. To date, a causative gene on locus Xp11.3p11.4 has not yet been identified. The most common cause of IIN is due to mutations in the FRMD7 gene, located on chromosome Xq26. We present a case of a new mutation found in three siblings from a family with FRMD7-related infantile nystagmus, whose parents are consanguineously related in the first degree. A complex mutation has occurred in this family, which, to date, has not been previously reported in the scientific literature. The complex mutation consists of the presence of three consecutive 1 bp deletions in exon 12 (c.1248delT; 1299del C; and 1312delT), causing a secondary deletion (c. 1340-2145 + 214del), and resulting in a truncated protein. We also present a 7-year-old patient from a different family, with periodic alternating nystagmus, having no mutation in the FRMD7 gene, which we assume may be an example of non-FRMD7-related IIN. This patient does not have a family history of nystagmus.

CHARGE syndrome: A case report of two new CDH7 gene mutations.

CHARGE syndrome is a genetic disorder comprising the following clinical features: coloboma, heart defects, choanal atresia, retardation (of growth and development), as well as genitourinary and ear abnormalities. This syndrome is caused by mutations in the CDH7 gene, located on chromosome 8 (8q12). We present two new gene mutations in two patients with CHARGE syndrome, not previously reported in the scientific literature. Both of these patients clearly demonstrate the difference in the clinical expression of this syndrome, with patient 1 having a greater clinical severity compared to patient 2. We conclude that although in the scientific literature to date there is no clear correlation between a patient's genotype and phenotype expression, we can assume from the cases we present that a correlation does in fact exist. Specifically, missense mutations (as in case of patient 2) are associated with milder clinical expression, whereas mutations which result in truncation of the CDH7 protein (as in the case of patient 1 having a nonsense mutation) may be associated with a more severe clinical expression.

Topical mitomycin in endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction in older children.

PURPOSE: Mitomycin C has been used in ophthalmic surgery to mitigate postoperative scarring. However, the outcomes of endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction with adjunctive mitomycin C in children remain unknown. Our study was aimed to evaluate the efficacy and safety of adjunctive application of mitomycin C after endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction in children. METHODS: This is a retrospective chart review performed in a tertiary eye care hospital involving children with congenital nasolacrimal duct obstruction, who underwent endoscopic-assisted probing from October 2013 to August 2015. We compared children who underwent endoscopic-assisted probing with mitomycin C (mitomycin C group) versus others who underwent endoscopic-assisted probing without mitomycin C (endoscopic-assisted probing group). The mitomycin C group received 0.2 mg/ml within 4 min to the nasolacrimal duct ostium using a cotton tip applicator immediately after probing. Probing was considered successful when patient complaints of tearing were reduced or the results of the dye disappearance test were normal. Demographic data, clinical features, and intraoperative and postoperative variables were correlated to the success rate. RESULTS: The study sample comprised 68 lacrimal vies. The majority of children had bilateral obstruction and no previous history of probing. The mean age of the patients was approximately 4 years. Most obstructions were considered complex. The success rates were high in both groups (p>0.05). There were no adverse events related to the use of mitomycin C (p>0.05). CONCLUSIONS: Although mitomycin C has no adverse effects when applied to the opening of the nasolacrimal duct, its use after lacrimal probing for the treatment of congenital nasolacrimal duct obstruction does not improve the chance of success.

Tungiasis infestation of dermis fat graft in an anophthalmic socket.

A patient with an anophthalmic socket with a dermis-fat graft (DFG) developed inflammation and a foul odour in the right socket. The DFG was surgically removed and Tungiasis infestation was detected. This is the first case to report Tungiasis infestation in a DFG in an anophthalmic socket.

A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma.

Peroxisomal biogenesis disorders (PBDs) are autosomal recessive diseases caused by mutations in one of the 14 PEX genes described in the scientific literature. All of these syndromes may be associated with different mutations in the PEX genes, the most frequent being PEX1 for patients with Zellweger syndrome (ZS). In this paper, we present the case of a patient with a peculiar clinical history: evisceration of the left eye (LE) at 4 years of age because of a benign ocular teratoid medulloepithelioma and a progressive loss of visual acuity (VA) in the right eye (RE) beginning at 9 years of age, leading to the diagnosis of ZS. In addition, the patient presented a mutation in the PEX14 gene that has not been previously described in the literature. This case broadens the spectrum of clinical expression in ZS patients because of not only the presence of a benign ocular teratoid medulloepithelioma at 4 years of age but also the late clinical expression of ZS (at 9 years of age).

Clinical presentation of multiple cerebral emboli and central retinal artery occlusion (CRAO) as signs of cardiac myxoma.

Cardiac myxomas are benign tumors of endocardial origin that usually occur in the left atrium. Trans-thoracic echocardiography is the diagnostic method of choice, and early surgical removal is the preferred method of treatment. We present a patient whose history of cerebral emboli and central retinal artery occlusion (CRAO) led to a diagnosis of cardiac myxoma. Neuroimaging studies showed multiple infarcts in the region of the left middle and anterior cerebral arteries. Ophthalmic examination showed gross retinal pallor compatible with left central retinal artery occlusion (CRAO). The etiology of stroke was investigated by performing trans-thoracic echocardiography, which showed a mass in the left atrium compatible with cardiac myxoma. Complete removal of the cardiac tumor was performed by open-heart surgery. Fortunately, after a period of rehabilitation, the patient's hemiparesis almost completely resolved, but the loss of vision OS remained unchanged. Many cases of myxoma are accompanied by constitutional symptoms, such as anemia, fever and weight loss, which allow for a diagnosis to made before serious complications such as embolism occur. Unfortunately, in some patients, such as ours, the absence of signs and symptoms allows the myxoma to pass completely unnoticed until the first embolic event occurs.

Dacryocystectomy: Indications and Results at Tertiary Eye Hospital in Central Saudi Arabia.

PURPOSE: To report indications and success rates of dacryocystectomy (DCT) in a tertiary hospital. METHODS: A retrospective chart review was performed of all patients who underwent DCT at the King Khaled Eye Specialist Hospital, Saudi Arabia, from 2008 to 2015. Data included patient demographics, symptoms before and after surgery, and complications. Univariate analysis using parametric and non-parametric methods was performed. RESULTS: Forty-seven DCT surgeries were performed over the study period. The median age of patients was 58.2 ± 2 years old, 63.8% were female, 60% of surgeries were performed on the left side, and 8% of patients underwent bilateral simultaneous DCT. Chronic dacryocystitis was the surgical indication for DCT for all of the patients and 23.5% of them had dry eye preoperatively. Successful treatment was observed in 80.8% of patients and 8.5% complained of tearing after DCT. CONCLUSION: The main indication for DCT in our hospital was chronic dacryocystitis with good outcomes for elderly patients with dry eyes.

Punctal Plug as a Treatment Option for Dry Eye Associated with Congenital Supernumary Puncta.

This study aims to describe a case of double lower lacrimal punctum-canaliculi in a dry eye patient treated with a punctal plug. A 60-year-old healthy female presented with complaints of tearing, itchy eyes, and foreign body sensation in the right eye for many years. There was no history of trauma or inflammation. Two patent independent supernumerary puncta and canaliculi were present on the right lower eyelid. The Schirmer Test II (with anesthesia) was zero, the tear breakup time was 2 s, and superficial punctate erosions were present in the right eye. A long-term nonabsorbable punctal plug was inserted into one of the lower puncta. At 9-month follow-up, the dry eye symptoms decreased markedly, the Schirmer Test II improved and superficial keratitis resolved.

Success Rates of Endoscopic-Assisted Probing Compared to Conventional Probing in Children 48 Months or Older.

BACKGROUND: To evaluate the success rates of endoscopic-assisted probing compared to conventional probing in children 48 months or older. METHODS: This retrospective study included children 48 months and older with CNLDO who underwent endoscopic-assisted probing or conventional probing between January 2011 to August 2015 at a tertiary eye care hospital in central Saudi Arabia. Probing was considered successful when signals of tearing or discharge disappeared and fluorescein dye disappearance test (FDDT) was normal. Demographic data, clinical features, intraoperative and postoperative variables were correlated to the success rate. RESULTS: One hundred and twelve children with CNLDO undergoing endoscopic-assisted (37 patients) or conventional (75 patients) probing were included. The success rates of endoscopic-assisted and conventional probing were 94.6% [95% confidence interval (CI): 89.5-99.7] and 58.7% [95% (CI): 47.6-69.8], respectively. The success rate was higher with endoscopic probing, especially in older children. CONCLUSIONS: Endoscopic-assisted probing can achieve better outcomes to treat CNLDO, even in older children. The significantly higher success rates with endoscopic probing are likely due to the ability to observe and treat associated problems.

Five Years' Experience with Tenon-Conjunctival Flaps in Phthisical Eyes.

BACKGROUND: To evaluate the efficacy of total Tenon-conjunctival flaps (TCFs) for coverage of phthisical eyes with normal corneal sensitivity. METHODS: A retrospective chart review was performed on 142 patients with mild monocular phthisis who underwent the TCF procedure to allow monocular scleral shell fitting at the King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. All patients had normal corneal sensation in their painless phthisical eye and were intolerant to cosmetic scleral shell fitting preoperatively. Consecutive patients over a five-year period were enrolled. Data were collected on functional success, duration of follow-up, and complications. The Tenon's and conjunctival layers were closed separately in 103 eyes and as a single layer in the remaining 39 eyes. Main outcome measures were functional success, defined as tolerance to the prosthetic scleral shell, and rate of postoperative complications such as wound retraction, epithelial cysts, and blepharoptosis. Fisher's exact test was used to analyze the association between the main outcome measures and type of flap closure. RESULTS: The mean duration of follow-up was 23.7±17.43 months. Functional success was achieved in 98.6% of eyes. Minor complications included epithelial inclusion cysts in 10 (7.04%) eyes and mild blepharoptosis in 9 (6.34%) eyes. Overall flap retraction was noted in 14 (9.86%) eyes. This complication occurred in 13 of 103 (33.3%) eyes with double layer closure and in 1 of 39 (0.97%) eyes with a single layer flap closure (p=0.11). CONCLUSIONS: TCF is an effective procedure to increase corneal thickness for coverage in phthisical eyes with positive corneal sensation. The incorporation of Tenon's capsule in the flap did not increase complications with a frequency similar to the classic Gundersen procedure.

Outcomes of Two Surgical Techniques Using Silicone Rod for Frontalis Sling Suspension to Treat Severe Ptosis.

PURPOSE: To compare outcomes of two techniques of frontalis silicone sling surgery. METHODS: This retrospective, nonrandomized chart review was performed on patients undergoing frontalis sling surgery between 2008 and 2011. Silicone rods were sutured to the tarsal plate through an eyelid crease incision (open method) or stab incisions (closed method). Data were collected on age, gender, type of surgery, preoperative and postoperative margin reflex distance (MRD), and complications. A successful outcome was defined as a postoperative score of 2 to 4 for MRD or an improvement in MRD. RESULTS: A total of 155 eyelids of 146 patients with ptosis were included. There were 60 patients in the open method group and 85 patients in the closed method group, respectively. Successful outcomes were seen in 30 (50%) patients in the open method and 44 (51.8%) patients in the closed method groups. There were 61 (71.8%) patients in the open method group and 45 (75%) patients in the closed method group who had improved MRD at last follow-up. The main complications were exposure keratitis, eyelash ptosis, and eyelid crease abnormalities that occurred only in the closed method group. CONCLUSIONS: The silicone frontalis sling procedure had the same success rates in both the open and closed methods. Eyelash and eyelid crease abnormalities were unique to the closed method. [J Pediatr Ophthalmol Strabismus. 2017;54(1):52-58.].