The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.

Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. Nine probands (69.2%) were assigned a genetic diagnosis, with variants in MYRF, TMEM98, MFRP, and PRSS56. Two of four PRSS56 families harbored the previously described c.1066dupC variant implicated in over half of all reported PRSS56 kindreds, with different surrounding haplotypes in each family suggesting a mutational hotspot. Individuals with a genetic diagnosis had shorter mean axial lengths and higher hyperopia than those without, with recessive forms associated with the most extreme phenotypes. These findings detail the genetic architecture of nanophthalmos and posterior microphthalmos in a cohort of predominantly European ancestry, their relative clinical phenotypes, and highlight the shared genetic architecture of rare and common disorders of refractive error.

The effect of fronto-orbital advancement on strabismus in children with unicoronal synostosis.

Unicoronal synostosis is frequently associated with strabismus. While the literature reports on the underlying bony dysmorphology and associated extraocular muscle dysfunction, the effect of the bony changes of fronto-orbital advancement has unpredictable effects on the strabismus associated with unicoronal synostosis. Previous authors have reported both resolution and new onset of strabismus following fronto-orbital advancement. The purpose of this study is to document the incidence of strabismus in patients with unicoronal synostosis and to assess the effect of fronto-orbital advancement on strabismus. A retrospective review of 20 patients with unicoronal synostosis was performed. The results demonstrated that 90% of our patients were noted to have strabismus preoperatively and this persisted postoperatively. Despite fronto-orbital advancement, strabismus persisted postoperatively. Seven (36.8%) required extraocular muscle surgery. In this series of patients with unicoronal synostosis there was a higher incidence of strabismus than previously reported elsewhere. Correction of the recessed frontal bone with bilateral fronto-orbital advancement does not fully address the orbital bony dysmorphology or correct the extraocular muscle dysfunction associated with unicoronal synostosis.

Orbital involvement by nasopharyngeal angiofibroma.

This article describes a rare cause of orbital apex syndrome in a child--juvenile nasopharyngeal angiofibroma. A high level of suspicion while treating an adolescent male with chronic nasal obstruction, epistaxis, and a nasal mass will promote early diagnosis. Multidisciplinary care is advisable, especially for advanced disease.

Retinoblastoma in Victoria, 1976-2000: changing management trends and outcomes.

PURPOSE: To describe changes in the management of retinoblastoma in Victoria and to review the effect of newer, conservative treatments on preservation of eyes, visual outcome and mortality by comparing a similar group of patients treated over successive time intervals. METHODS: A retrospective analysis of all cases of retinoblastoma diagnosed and treated in Victoria between 1956 and 2000 was conducted. Historical data on 77 cases previously published by O'Day et al. was used for the period 1956-1976 (series 1). Data on 88 cases recorded in the Royal Children's Hospital (Melbourne) Retinoblastoma Database was used for the period 1976-2000. The latter group was subdivided into those treated between 1976 and 1989 (series 2), prior to the advent of modern eye saving treatments, and those treated subsequent to their introduction from 1990 to 2000 (series 3). RESULTS: In unilateral retinoblastoma, final enucleation rates for 1956-1976 (series 1) and 1976-1989 (series 2) were almost identical, being 98% and 97% of affected eyes, respectively (P = 1.00). Despite the newer treatments used after 1990 (series 3), 88% of affected eyes were still enucleated, representing a statistically similar outcome to series 2 (P = 0.33). In bilateral retinoblastoma, primary enucleation of the more involved eye was similar for series 1 (84%) and 2 (80%) but series 3 (41%) was substantially less than series 2 (P = 0.04) following the increased use of conservative treatments. In series 3, 59% of more involved eyes were treated conservatively compared with 16% (P = 0.007) and 20% (P = 0.04) for series 1 and 2, respectively. Despite attempts at eye salvage, the failure rate was higher in series 3 (29%) yielding a final enucleation rate of 70%, which represented a modest downward trend in the numbers of eyes finally enucleated; 84% (series 1), 73% (series 2) and 70% (series 3) (test for trend, P = 0.33). Bilateral enucleation rates were significantly lower, from 36% and 30% in series 1 and 2, respectively, to 7% in series 3 (test for trend, P = 0.02). As a consequence, more eyes were preserved over time, being 20/50 (40%) in series 1, 15/30 (50%) in series 2 and 21/34 (62%) in series 3. Comparison of visual outcome was hampered by incomplete data in series 1 but it appeared series 2 and 3 achieved better visual acuities with 67% and 62% of preserved eyes in bilateral cases measuring equal to or better than 6/12. Mortality rates in all series were low, being 7.8% in series 1, 4.5% in series 2 and nil in series 3. CONCLUSIONS: Following the introduction of new conservative treatments, there has been an increase in preservation of eyes and improved visual outcome, and a dramatic decrease in numbers of bilateral enucleations without adversely affecting survival.