Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: A new syndrome complex or consummate myotonic dystrophy?

1. Gillies MC, Simpson JM, Billson FA, Luo W, Penfold P, Chua W, et al. Safety of an intravitreal injection of triamcinolone: Results from a randomized clinical trial. Arch Ophthalmol 2004;122:336-40. 2. Thompson JT. Cataract formation and other complications of intravitreal triamcinolone acetonide for macular edema. Am J Ophthalmol 2006;141:629-37. 3. Moshfeghi DM, Kaiser PK, Scott IU, Sears JE, Benz M, Sinesterra JP, et al. Acute endophthalmitis after intravitreal triamcinolone acetonide injection. Am J Ophthalmol 2003;136:791-6. 4. Degenring RF, Sauder G. Vitreous prolapse and IOL dislocation during intravitreal injection of triamcinilone acetonide. Graefes Arch Clin Exp Ophthalmol 2006;244:1043-4. 5. Chen SD, Chen FK, Patel C. Opaque coating of the intraocular lens and regression of iris neovascularization following injection of triamcinolone acetonide into the anterior chamber. Clin Exp Ophthalmol 2006;34:803-5.


Polycythemia vera presenting with bilateral papilledema
Dear Editor, I read with interest the brief report by Parija et al. [1] and appreciate the manner in which the case was diagnosed and treatment instituted leading to good visual recovery in one eye.In this regard, I would like to make the following comments.
The clinical presentation was suggestive of raised intracranial pressure, with the diagnostic workup pointing to cerebral venous thrombosis (CVT).CVT is a relatively common presentation of polycythemia vera. [2]When we reviewed the records of 50 CVT patients treated at our hospital over a period of four years, four cases were secondary to polycythemia vera.Of these four patients three, presented with signs and symptoms similar to the reported patient.In all cases of CVT one should rule out the multiple known causes of CVT including myeloproliferative disorders like polycythtemia vera. [2]Hence, the presentation is not as rare as it has been alluded to in the report.This report highlights the diagnosis of an uncommon hematological condition which primarily presented to an ophthalmologist.CVT is often under diagnosed even by neurologists.It should be remembered that almost 40% of CVT patients present with signs and symptoms suggestive of isolated intracranial. [3,4]A thorough diagnostic workup including magnetic resonance imaging (MRI) should be done before labeling a case as idiopathic intracranial hypertension (IIH), as the management and outcome of these two conditions vary signiÞ cantly.With the increasing use of MRI in all cases suspected to be a brain syndrome, CVT has been increasing diagnosed.MRI is now the gold standard in the diagnosis of CVT as rightly done in this case.
Visual loss in CVT maybe due to thrombotic ischemia of any structure of the visual pathway or due to pressure on the optic nerve due to the transmitt ed raised intracranial pressure (ICP).All cases of CVT with visual loss require visual Þ eld analysis and measurement of optic nerve sheath diameter using B-scan ultrasonography (USG).Visual loss in patients with CVT due to transmitt ed raised ICP (indicated by increased optic nerve sheath diameter on USG) not amenable to medical management is an indication for optic nerve sheath decompression (ONSD).ONSD as a treatment option for the visual loss in the left eye should have been off ered to the patient in this case, as it has been shown to be eff ective even in the presence of optic disc pallor. [4,5]Moreover, ONSD is commonly and more easily done by the medial transconjunctival approach or the lateral orbitotomy approach and not through the orbital roof as mentioned in the report. [1]

Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: A new syndrome complex or consummate myotonic dystrophy?
Dear Editor, We thank the authors for their equivocations in reply to our lett er. [1]The reply fails to address the inherent contradictions cloaking the report, be it clinical findings, diagnostic oversights or syndromic prophecy, implicitly paraphrasing blepharophimosis (BP), euryblepharon, V patt ern strabismus, anatomy and embryology of the lids and extra-ocular muscles (EOMs) as well as association between BP, epicanthus inversus and ptosis syndrome (BEPS) and strabismus.
In BP, the horizontal lid apertures range between 18 to 22 mm, apertures from 25 to 30 mm are taken as normal. [2]Apertures of 26 and 28 mm here, do not constitute BP, BP and euryblepharon, BP and euryblepharon are contradictory and cannot coexist as reported, similarly exophoria in primary position and divergence in upgaze implies a T rather V patt ern. [3]Versions here betray an unmistakable asymmetrical limitation of both upgaze and downgaze, simulating simultaneous overaction of both inferior and superior oblique muscles and underaction of vertical recti due to myotonia and/ or myopathy. [3]BP, BEPS are thus out of bounds, so are the hallowed, prophesied syndromic affi liations with syndromic retinitis pigmentosa.
The constellation of findings [3] instead, constitute seminel manifestations of ocular involvement in myotonic dystrophy (MD)-1.Spectrum of presentation in MD, mirrored in this case may include ptosis, asymmetric motility limitations; blue, blue-green, iridescent dust/dots, snowballs, cortical spokes, subcapsular plaques in the lens; attenuated retinal arterioles, peripheral pigmentary degenerations, diminished/extinguished photopic/ scotopic responses on electroretinograph and peripheral constriction of visual Þ elds. [4]Optic atrophy has been described on many occasions. [5]A pupil refractory to dilatation [3] bears mute testimony to the underlying disorder.Enophthalmos, seborrheic blepharitis, neovascular tuft s on the iris, short depigmented ciliary processes, eso/exotropia, convergence insuffi ciency, epiphora, dry eye, hypotony and pigment streaks at fovea are also reported. [4]MD-1 is an autosomal dominant disorder resulting from an expansion of unstable cytosine, guanine, thymidine (CTG) repeat in the 3'-untranslated region of a protein kinase gene (DMPK) on chromosome 19q13.3. [5]D-2 results from abnormalities on chromosome 3. Normals have 5 to 30 CTG repeats; patients with MD-1 have 50 to 3000 repeats.More repeats imply more severe disease.Variability in presentation; reduced smooth pursuit gain and reduced saccadic peak velocity are hallmarks in MD, a multi-system disorder involving muscular, ocular, endocrine, cardiac and cognitive impairment.
Mesodermal dysgenesis and embryogenesis of EOMs have nothing proximate between them, [1] other than primordial mesodermal underpinnings, how authors drew a parallel between the two, imputing culpability on us is intriguing.
Notwithstanding authors assertions, [1] other than epidermis, epidermal appendages including eye-lashes, glands and conjunctival epithelium, the rest of eyelids including dermis, orbicularis oculi, tarsal plates, levator palpebrae superioris, substantia propria of the conjunctiva and blood vessels are strictly mesodermal in origin.
The authors need to be congratulated for appalling ingenuity in conß ating a new syndrome [3] in the genre of syndromic retinitis pigmentosa from a century old MD [4] Mis-diagnosing MD and eschewing interdisciplinary approach can be parlous, as arrythmias can lead to sudden death, raising medico-legal and ethical issues for the ophthalmologist.